Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



ALDH6A1 Gene

protein-coding   GIFtS: 63
GCID: GC14M074527

Aldehyde Dehydrogenase 6 Family, Member A1


(Previous symbol: MMSDH)
  See ALDH6A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Aldehyde Dehydrogenase 6 Family, Member A11 2     Mitochondrial Acylating Methylmalonate-Semialdehyde Dehydrogenase2
MMSDH1 2 3 5     EC 1.2.1.183
MMSADHA2     EC 1.2.1.273
Malonate-Semialdehyde Dehydrogenase2     Aldehyde Dehydrogenase Family 6 Member A13
Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial2     Malonate-Semialdehyde Dehydrogenase [Acylating]3

External Ids:    HGNC: 71791   Entrez Gene: 43292   Ensembl: ENSG000001197117   OMIM: 6031785   UniProtKB: Q022523   

Export aliases for ALDH6A1 gene to outside databases

Previous GC identifers: GC14M072032 GC14M068322 GC14M072516 GC14M073597 GC14M054693


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for ALDH6A1 Gene:
This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial
methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This
protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to
acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated
beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic
acids. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Jun 2013)

GeneCards Summary for ALDH6A1 Gene:
ALDH6A1 (aldehyde dehydrogenase 6 family, member A1) is a protein-coding gene. Diseases associated with ALDH6A1 include methylmalonate semialdehyde dehydrogenase deficiency, and succinic semialdehyde dehydrogenase deficiency. GO annotations related to this gene include malonate-semialdehyde dehydrogenase (acetylating) activity and fatty-acyl-CoA binding. An important paralog of this gene is ALDH1L2.

UniProtKB/Swiss-Prot: MMSA_HUMAN, Q02252
Function: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA

Gene Wiki entry for ALDH6A1 (Aldehyde dehydrogenase 6 family, member A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDH6A1 gene promoter:
         POU6F1 (c2)   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   HNF-3beta   Ik-3   POU3F2   N-Myc   Ik-2   deltaCREB   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDH6A1 promoter sequence
   Search Chromatin IP Primers for ALDH6A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH6A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

ALDH6A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH6A1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M074527:  view genomic region     (about GC identifiers)

Start:
74,523,553 bp from pter      End:
74,551,196 bp from pter
Size:
27,644 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MMSA_HUMAN, Q02252 (See protein sequence)
Recommended Name: Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial precursor  
Size: 535 amino acids; 57840 Da
Subunit: Homotetramer
Secondary accessions: B2R609 Q9UKM8

Explore the universe of human proteins at neXtProt for ALDH6A1: NX_Q02252

Explore proteomics data for ALDH6A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ALDH6A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265522.1  NP_001265523.1  NP_005580.1  

    ENSEMBL proteins: 
     ENSP00000450436   ENSP00000342564   ENSP00000452081  
    Reactome Protein details: Q02252

    ALDH6A1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ALDH6A1
    OriGene Protein Over-expression Lysate for ALDH6A1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ALDH6A1
    GenScript Custom Purified and Recombinant Proteins Services for ALDH6A1
    Novus Biologicals ALDH6A1 Protein
    Novus Biologicals ALDH6A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALDH6A1

     
    Search eBioscience for Proteins for ALDH6A1 

    ALDH6A1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ALDH6A1
    OriGene Custom Antibody Services for ALDH6A1
    Novus Biologicals ALDH6A1 Antibodies
    Abcam antibodies for ALDH6A1
    Cloud-Clone Corp. Antibodies for ALDH6A1
    ThermoFisher Antibodies for ALDH6A1
    LSBio Antibodies in human, mouse, rat for ALDH6A1

    ALDH6A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ALDH6A1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ALDH6A1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ALDH6A1
    Cloud-Clone Corp. CLIAs for ALDH6A1
    Search eBioscience for ELISAs for ALDH6A1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    ALDH: Aldehyde dehydrogenases

    Selected InterPro protein domains (see all 6):
     IPR016163 Ald_DH_C
     IPR016162 Ald_DH_N
     IPR016161 Ald_DH/histidinol_DH
     IPR015590 Aldehyde_DH_dom
     IPR016160 Ald_DH_CS

    Graphical View of Domain Structure for InterPro Entry Q02252

    ProtoNet protein and cluster: Q02252

    1 Blocks protein domain: IPB002086 Aldehyde dehydrogenase

    UniProtKB/Swiss-Prot: MMSA_HUMAN, Q02252
    Similarity: Belongs to the aldehyde dehydrogenase family


    Find genes that share domains with ALDH6A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMSA_HUMAN, Q02252
    Function: Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA
    Catalytic activity: 2-methyl-3-oxopropanoate + CoA + H(2)O + NAD(+) = propanoyl-CoA + HCO(3)(-) + NADH
    Catalytic activity: 3-oxopropanoate + CoA + NAD(P)(+) = acetyl-CoA + CO(2) + NAD(P)H

         Enzyme Numbers (IUBMB): EC 1.2.1.181 EC 1.2.1.271

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding ISS--
    GO:0004491methylmalonate-semialdehyde dehydrogenase (acylating) activity ISS--
    GO:0016491oxidoreductase activity ----
    GO:0018478malonate-semialdehyde dehydrogenase (acetylating) activity ISS--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with ALDH6A1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH6A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALDH6A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALDH6A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALDH6A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ALDH6A1:
    hsa-mir-320e (MIRT052812)

    Block miRNA regulation of human, mouse, rat ALDH6A1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ALDH6A1:
    hsa-miR-512-5p hsa-miR-510
    SwitchGear 3'UTR luciferase reporter plasmidALDH6A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALDH6A1
    Predesigned siRNA for gene silencing in human, mouse, rat ALDH6A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ALDH6A1

    Clone
    Products:
         
    OriGene clones in human, mouse for ALDH6A1 (see all 7)
    OriGene ORF clones in mouse, rat for ALDH6A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALDH6A1 (NM_005589)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH6A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH6A1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ALDH6A1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ALDH6A1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH6A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MMSA_HUMAN, Q02252: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion NAS1527093
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ALDH6A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for ALDH6A1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    beta-alanine degradation I0.00
    Propanoate metabolism0.31
    valine degradation I0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives
    4Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    5Carbon metabolism
    Carbon metabolism0.38


    Find genes that share SuperPaths with ALDH6A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ALDH6A1
        valine degradation I
    beta-alanine degradation I

    1 Reactome Pathway for ALDH6A1
        Branched-chain amino acid catabolism


    Selected Kegg Pathways  (Kegg details for ALDH6A1) (see all 6):
        Valine, leucine and isoleucine degradation
    beta-Alanine metabolism
    Inositol phosphate metabolism
    Propanoate metabolism
    Metabolic pathways

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH6A1: 
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDH6A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALDH6A1 (Q022523 ENSP000003425644) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRMT10CQ7L0Y33, ENSP000003123564I2D: score=1 STRING: ENSP00000312356
    SHC1P293533I2D: score=2 
    KCNMA1Q127913I2D: score=1 
    SLC2A4P146723I2D: score=1 
    ABATENSP000002682514STRING: ENSP00000268251
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006210thymine catabolic process IMP--
    GO:0006573valine metabolic process ISS--
    GO:0006574valine catabolic process IMP--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--

    Find genes that share ontologies with ALDH6A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALDH6A1 (MMSA)

    Selected HMDB Compounds for ALDH6A1 (see all 39)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    2-Methyl-3-oxopropanoic acid2-Methyl-3-oxopropanoate (see all 7)6236-08-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--

    1 DrugBank Compound for ALDH6A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--1898092 17139284 17016423

    2 Novoseek inferred chemical compound relationships for ALDH6A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylmalonate semialdehyde 98.4 4 1527093 (1), 16212409 (1), 15045523 (1)
    gibberellin 71.5 2 15045523 (2)



    Find genes that share compounds with ALDH6A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for ALDH6A1 gene (3 alternative transcripts): 
    NM_001278593.1  NM_001278594.1  NM_005589.3  

    Unigene Cluster for ALDH6A1:

    Aldehyde dehydrogenase 6 family, member A1
    Hs.293970  [show with all ESTs]
    Unigene Representative Sequence: AK311478
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553458(uc001xpo.3 uc010tuq.2) ENST00000554501(uc010asa.3)
    ENST00000350259 ENST00000555126 ENST00000554231 ENST00000553814 ENST00000556852

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ALDH6A1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ALDH6A1:
    hsa-miR-512-5p hsa-miR-510
    SwitchGear 3'UTR luciferase reporter plasmidALDH6A1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ALDH6A1
    Predesigned siRNA for gene silencing in human, mouse, rat ALDH6A1
    Clone
    Products:
         
    OriGene clones in human, mouse for ALDH6A1 (see all 7)
    OriGene ORF clones in mouse, rat for ALDH6A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALDH6A1 (NM_005589)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDH6A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH6A1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ALDH6A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALDH6A1
      QuantiTect SYBR Green Assays in human, mouse, rat ALDH6A1
      QuantiFast Probe-based Assays in human, mouse, rat ALDH6A1

    Additional mRNA sequence: 

    AF038011.1 AF148505.1 AF159889.1 AJ249994.1 AK222687.1 AK223244.1 AK294243.1 AK311478.1 
    AK312389.1 BC004909.1 BC032371.1 M93405.1 

    13 DOTS entries:

    DT.97799801  DT.415528  DT.95206476  DT.120749896  DT.101969951  DT.120749823  DT.95272686  DT.120749787 
    DT.100692726  DT.101969269  DT.111832  DT.120749802  DT.120749903 

    Selected AceView cDNA sequences (see all 229):

    BP362020 BP361181 C02359 BG433772 BM558219 AL711020 CR613362 BE501744 
    AU121658 BU162020 BP350188 BG743099 M93405 AL708576 BU156347 BP357878 
    AF148505 CA428937 BG399757 AI244036 BX503146 T19816 AJ249994 AU076986 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    ALDH6A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCGTTAGA
    ALDH6A1 Expression
    About this image


    ALDH6A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
             Metanephros
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ALDH6A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDH6A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.293970
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ALDH6A1: 
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ALDH6A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALDH6A1
    QuantiTect SYBR Green Assays in human, mouse, rat ALDH6A1
    QuantiFast Probe-based Assays in human, mouse, rat ALDH6A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH6A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH6A1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldh6a11 , 5 aldehyde dehydrogenase family 6, subfamily A11, 5 90.71(n)1
    95.19(a)1
      12 (39.21 cM)5
    1047761  NM_134042.21  NP_598803.11 
     844307235 
    chicken
    (Gallus gallus)
    Aves ALDH6A11 aldehyde dehydrogenase 6 family, member A1 78.16(n)
    86.32(a)
      423345  XM_421260.4  XP_421260.2 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH6A16
    aldehyde dehydrogenase 6 family, member A1
    84(a)
    1 ↔ 1
    1(23719527-23741114)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.270812 Xenopus laevis transcribed sequence with moderate similarity more 78.23(n)    BX843078.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.73362 Transcribed sequence with moderate similarity to protein more 77.73(n)    CF347424.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta EG:171D11.13
    CG178961
    methylmalonate-semialdehyde
    dehydrogenase (acylating)3
    CG178961
    68(a)3
    66.67(n)1
    68.55(a)1
      1B53
    309951  NM_130489.21  NP_569845.21 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-81 alh-8 65.45(n)
    68.69(a)
      174800  NM_001026907.2  NP_001022078.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH6B21 ALDH6B2 59.76(n)
    59.96(a)
      815903  NM_126989.1  NP_179032.1 
    rice
    (Oryza sativa)
    Liliopsida Os.19842 Oryza sativa methylmalonate semi-aldehyde dehydrogenase more 73.57(n)    AK121280.1 


    ENSEMBL Gene Tree for ALDH6A1 (if available)
    TreeFam Gene Tree for ALDH6A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for ALDH6A1 gene
    ALDH1L22  ALDH1A12  ENSG000002577672  ALDH1A22  ALDH1B12  ALDH7A12  ALDH22  ALDH8A12  
    ALDH9A12  ALDH1A32  ALDH1L12  
    10 SIMAP similar genes for ALDH6A1 using alignment to 3 protein entries:     MMSA_HUMAN (see all proteins):
    MMSADHA    ALDH1L2    ALDH1A1    ALDH8A1    ALDH1A3    ALDH1A2
    ALDH1B1    ALDH9A1    ALDH2    ALDH5A1

    Find genes that share paralogs with ALDH6A1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ALDH6A1
    PGOHUM00000235538


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for ALDH6A1 (see all 453)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0102444
    Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)4--see VAR_0102442 G R mis40--------
    rs725522581,2
    C,Fpathogenic155523705(-) GAAATG/AGAACT 2 /R /G mis14Minor allele frequency- A:0.00MN WA EA 840
    rs101433051,2
    C--55526711(+) aggcaA/Cctgta 1 -- int10--------
    rs30828791,2
    C--55526846(+) AAAAAAA/-GTGAT 1 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs1508772721,2
    --55526863(+) TTAACA/GTGACT 1 -- int10--------
    rs588251611,2
    C,F--55527062(+) CGGGCG/ACTGTG 1 -- int11Minor allele frequency- A:0.04WA 118
    rs1442917111,2
    C--55527075(+) ATGTGC/GTTGTA 1 -- int10--------
    rs1127981871,2
    C,F--55527149(+) TGAGCC/TGAGAT 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs1504897131,2
    C--55527182(+) GTGAC-/AGAG  
            
    AGACT
    1 -- int10--------
    rs1885261901,2
    --55527226(+) ATTGGA/TGTGGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ALDH6A1 (74523553 - 74551196 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ALDH6A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660368CNV Deletion23128226
    esv22046CNV Loss19812545
    dgv642e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): ALDH6A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALDH6A1
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDH6A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603178   
    OMIM disorders: 614105  
    UniProtKB/Swiss-Prot: MMSA_HUMAN, Q02252
  • Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]: A metabolic disorder
    characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and
    3-hydroxyisobutyric acids in urine organic acids. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 2 diseases for ALDH6A1:    
    About MalaCards
    methylmalonate semialdehyde dehydrogenase deficiency    succinic semialdehyde dehydrogenase deficiency

    1 disease from the University of Copenhagen DISEASES database for ALDH6A1:
    Succinic semialdehyde dehydrogenase deficiency

    Find genes that share disorders with ALDH6A1           About GenesLikeMe

    Genetic Association Database (GAD): ALDH6A1
    Human Genome Epidemiology (HuGE) Navigator: ALDH6A1 (3 documents)

    Export disorders for ALDH6A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for ALDH6A1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with ALDH6A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution. (PubMed id 1527093)1, 2, 3, 9 Kedishvili N.Y....Harris R.A. (J. Biol. Chem. 1992)
    2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. (PubMed id 10947204)1, 2, 9 Chambliss K.L.... Gibson K.M. (J. Inherit. Metab. Dis. 2000)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Web-based, participant-driven studies yield novel genetic associations for common traits. (PubMed id 20585627)1, 4 Eriksson N....Mountain J. (PLoS Genet. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. (PubMed id 21863277)1 Sass J.O....Smith L.D. (J. Inherit. Metab. Dis. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4329 HGNC: 7179 AceView: ALDH6A1 Ensembl:ENSG00000119711 euGenes: HUgn4329
    ECgene: ALDH6A1 Kegg: 4329 H-InvDB: ALDH6A1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for ALDH6A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for ALDH6A1 gene:
    Search GeneIP for patents involving ALDH6A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ALDH6A1   OriGene RNAi products in human, mouse, rat for ALDH6A1  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for ALDH6A1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for ALDH6A1  
     OriGene qSTAR qPCR primer pairs in human, mouse for ALDH6A1   OriGene Purified Protein for ALDH6A1  
     OriGene ORF clones in mouse, rat for ALDH6A1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ALDH6A1   OriGene Custom Protein Services for ALDH6A1  

     
     
     Block miRNA regulation of human, mouse, rat ALDH6A1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ALDH6A1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALDH6A1 Predesigned siRNA for gene silencing in human, mouse, rat ALDH6A1
     QuantiFast Probe-based Assays in human, mouse, rat ALDH6A1 QuantiTect SYBR Green Assays in human, mouse, rat ALDH6A1
     PCR Arrays including human, mouse, rat ALDH6A1 Search Chromatin IP Primers for ALDH6A1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALDH6A1  Search GeneGlobe Interaction Network for ALDH6A1
     Regulatory tfbs in ALDH6A1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for ALDH6A1 GenScript cDNA clones with any tag delivered in your preferred vector for ALDH6A1
     GenScript Custom Assay Services for ALDH6A1 GenScript Custom overexpressing Cell Line Services for ALDH6A1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for ALDH6A1 (MMSA)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     ALDH6A1 antibodies
     ALDH6A1 proteins
     ALDH6A1 lysates
     Antibodies for ALDH6A1
     See all of Abcam's Antibodies, Kits and Proteins for ALDH6A1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for ALDH6A1
     Antibodies for ALDH6A1
     ELISAs for ALDH6A1
     CLIAs for ALDH6A1



     Browse ESI BIO Cell Lines and PureStem Progenitors for ALDH6A1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH6A1
     SwitchGear 3'UTR luciferase reporter plasmids for ALDH6A1
     SwitchGear Promoter luciferase reporter plasmids for ALDH6A1
     ThermoFisher Antibodies for ALDH6A1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDH6A1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALDH6A1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALDH6A1
     LSBio Antibodies in human, mouse, rat for ALDH6A1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for ALDH6A1
      Search eBioscience for proteins for ALDH6A1
      Search eBioscience for elisas for ALDH6A1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ALDH6A1 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4