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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALDH6A1 Gene

protein-coding   GIFtS: 63
GCID: GC14M074527

Aldehyde Dehydrogenase 6 Family, Member A1


(Previous symbol: MMSDH)
  See 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

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

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 3-hydroxyisobutyric aciduria, and methylmalonate semialdehyde dehydrogenase deficiency, and among its related super-pathways are valine degradation I and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALDH6A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02252

  • ALDH6A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDH6A1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001265522.1  NP_001265523.1  NP_005580.1  

    ENSEMBL proteins: 
     ENSP00000450436   ENSP00000342564   ENSP00000452081  
    Reactome Protein details: Q02252
    Human Recombinant Protein Products for ALDH6A1: 
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    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ALDH6A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ALDH: Aldehyde dehydrogenases

    5/6 InterPro protein domains (see all 6):
     IPR016162 Ald_DH_N
     IPR016163 Ald_DH_C
     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


    ALDH6A1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 4 molecular function terms (GO ID links to tree view):    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--
         
    ALDH6A1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    valine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    Branched-chain amino acid catabolism0.50
    Propanoate metabolism0.31
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Inositol phosphate metabolism
    Inositol phosphate metabolism0.61
    44-aminobutyrate degradation I
    beta-alanine degradation I0.50
    5beta-Alanine metabolism
    beta-Alanine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    3        Reactome Pathways for ALDH6A1
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism


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


    ALDH6A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALDH6A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/25 Interacting proteins for ALDH6A1 (Q022523 ENSP000003425644) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006573valine metabolic process ISS--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0019859thymine metabolic process ISS--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    ALDH6A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALDH6A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ALDH6A1 (MMSA)

    10/39 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)

    Search CenterWatch for drugs/clinical trials and news about ALDH6A1 / MMSA

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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

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    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 

    24/229 AceView cDNA sequences (see all 229):

    BG743099 C02359 CK821493 BP361181 AU076986 BC032371 AL708576 NM_005589 
    BP360485 AF159889 BE501744 CR613362 M93405 BP350188 BM558219 BX503146 
    BG433772 AI244036 BP341970 AL711020 BP362020 BP357878 CN484442 BP361411 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALDH6A1 expression in normal human tissues (normalized intensities)      ALDH6A1 embryonic expression: see
    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 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   

    See ALDH6A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDH6A1

    SOURCE GeneReport for Unigene cluster: Hs.293970
        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDH6A1: 
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALDH6A1 gene from 10/26 species (see all 26)    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 90.66(n)1
    95.11(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 77.11(n)
    84.62(a)
      423345  XM_421260.3  XP_421260.2 
    lizard
    (Anolis carolinensis)
    Reptilia ALDH6A16
    aldehyde dehydrogenase 6 family, member A1
    82(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
    68.33(a)1
      1B53
    309951  NM_130489.21  NP_569845.21 
    worm
    (Caenorhabditis elegans)
    Secernentea alh-81 Protein ALH-8 66.06(n)
    69.04(a)
      174800  NM_001026907.1  NP_001022078.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ALD36
    ALD26
    Cytoplasmic aldehyde dehydrogenase, involved in be...
    Cytoplasmic aldehyde dehydrogenase, involved in et...
    29(a)
    29(a)
    many → 1
    many → 1
    XIII(599352-600872)
    XIII(601562-603082)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALDH6B21 Methylmalonate-semialdehyde dehydrogenase [acylating] 59.39(n)
    59.33(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
    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

    ALDH6A1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/453 SNPs in ALDH6A1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603178    OMIM disorders: --

    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

  • 5 diseases for ALDH6A1:    About MalaCards
    3-hydroxyisobutyric aciduria    methylmalonate semialdehyde dehydrogenase deficiency    succinic semialdehyde dehydrogenase deficiency    maple syrup urine disease
    tuberculosis

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

    ALDH6A1 for disorders           About GeneDecksing

    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

    PubMed articles for ALDH6A1 gene, integrated from 9 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. (1992)
    2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. (PubMed id 10947204)1, 2, 9 Chambliss K.L.... Gibson K.M. (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. (2010)
    4. Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1, 4 Eriksson N....Mountain J. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (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. (2004)
    8. 3-Hydroxyisobutyrate aciduria and mutations in the ALD H6A1 gene coding for methylmalonate semialdehyde dehydrogenase. (PubMed id 21863277)1 Sass J.O....Smith L.D. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 4329 HGNC: 7179 AceView: ALDH6A1 Ensembl:ENSG00000119711 euGenes: HUgn4329
    ECgene: ALDH6A1 Kegg: 4329 H-InvDB: ALDH6A1

    (According to HUGE)
    About This Section
      --

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



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