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

ALDH6A1 Gene

protein-coding   GIFtS: 60
GCID: GC14M074527

aldehyde dehydrogenase 6 family, member A1


(Previous symbol: MMSDH)
 Explore 4 diseases affiliated with
ALDH6A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ALDH6A1    

Aliases
for ALDH6A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Aldehyde Dehydrogenase 6 Family, Member A11 2     Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial2
MMSDH1 2 3 5     Mitochondrial Acylating Methylmalonate-Semialdehyde Dehydrogenase2
Aldehyde Dehydrogenase Family 6 Member A12 3     EC 1.2.1.183
MMSADHA2     EC 1.2.1.273
Malonate-Semialdehyde Dehydrogenase2     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


Summaries
for ALDH6A1 gene

(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:
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and
pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase,
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. (provided
by RefSeq, Jul 2008)

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)


Genomic Views
for ALDH6A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
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 plasmid: ALDH6A1 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

Proteins
for ALDH6A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q02252

    • ALDH6A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005580.1  
    ENSEMBL proteins: 
     ENSP00000450436   ENSP00000342564   ENSP00000452081  
    Reactome Protein details: Q02252
    Human Recombinant Protein Products: 
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    Uscn Proteins for ALDH6A1

    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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    Protein Domains /
    Families
    for ALDH6A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ALDH6A1 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB002086 Aldehyde dehydrogenase

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


    Function
    for ALDH6A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ALDH6A1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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:0016790thiolester hydrolase activity ----
    GO:0018478malonate-semialdehyde dehydrogenase (acetylating) activity ISS--


    ALDH6A1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for ALDH6A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		Valine, leucine and isoleucine degradation0.39
    		valine degradation I0.48
    		Propanoate metabolism0.07
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Inositol phosphate metabolism
    		Inositol phosphate metabolism1.00
    5Degradation of GABA
    		beta-alanine degradation I0.33

    Pathway sources
    See GeneCards unified pathways
    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


    4         Kegg Pathways  (Kegg details for ALDH6A1):
        Valine, leucine and isoleucine degradation
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006210thymine catabolic process ----
    GO:0006573valine metabolic process ISS--
    GO:0006574valine catabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0019484beta-alanine catabolic process ----


    ALDH6A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ALDH6A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ALDH6A1

    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 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 

    Transcripts
    for ALDH6A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ALDH6A1 gene: 
    NM_005589.2  

    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
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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    M93405 BP360485 C02359 AL708576 AF159889 CR613362 BX503146 BG825132 
    BU156347 BP361411 BP357878 BE501744 AI569485 BM558219 NM_005589 BG433772 
    AF148505 AL711020 BP350188 AU076986 AJ249994 BU162020 BP362020 AU121658 

    GeneLoc Exon Structure


    Expression
    for ALDH6A1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCCGTTAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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
    for ALDH6A1 gene

    (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 8/35 species (see all 35)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 84(a)
    		 1 ↔ 1
    		 1(23722899-23741114)
    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 
    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
    for ALDH6A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDH6A1 gene
    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


    Genomic Variants
    for ALDH6A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/489 NCBI SNPs in ALDH6A1 are shown (see all 489)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs725522581,2
    		C,Fpathogenic74531952(-) GAAATG/AGAACT 3 /R /G ut31 mis14Minor allele frequency- A:0.00MN WA EA 840
    rs1849339971,2
    		--74526653(+) AACTTC/TGGGAT 2 -- int1 ds50010--------
    rs46468641,2
    		C,F,--74526703(-) TTAGCC/TCCTCT 2 -- ds5001 int12Minor allele frequency- T:0.14NA EA 240
    rs1130318921,2
    		C,--74526746(+) ATTTAC/GGTAGC 2 -- int1 ds50011Minor allele frequency- G:0.00CSA 1
    rs1897903491,2
    		--74526777(+) AAAAGC/TGGTGA 2 -- int1 ds50010--------
    rs751993851,2
    		F,--74526778(+) AAAGCG/AGTGAG 2 -- int1 ds50011Minor allele frequency- A:0.03EA 120
    rs773249061,2
    		F,--74526851(+) AAAAAT/ATTTTT 2 -- ds5001 int12Minor allele frequency- A:0.16NA EA 240
    rs11358861,2
    		C,F,--74526912(-) CGTGGC/TGAAAC 2 -- ut31 int15Minor allele frequency- T:0.13NA EA 246
    rs11358851,2
    		C,F,--74526942(-) GCAGAT/CTGCTT 2 -- int1 ut319Minor allele frequency- C:0.25NA MN WA CSA EA 554
    rs11358831,2
    		H--74526975(-) CTGTGA/GTTCCA 2 -- int1 ut314Minor allele frequency- G:0.00EA NS NA 182

    HapMap Linkage Disequilibrium report for ALDH6A1 (74523553 - 74551196 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ALDH6A1
         2 CNVs: 66668 3055
    Human Gene Mutation Database (HGMD): ALDH6A1

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    Disorders / Diseases
    for ALDH6A1 gene

    (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
    ALDH6A1 for disorders           About GeneDecksing

    OMIM gene information: 603178    OMIM disorders: --

    UniProtKB/Swiss-Prot: MMSA_HUMAN, Q02252
  • Defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)
    • [MIM:614105]. This is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and
    3-hydroxyisobutyric acids in urine organic acids

    4 diseases for ALDH6A1:    About MalaCards
    methylmalonate semialdehyde dehydrogenase deficiency    maple syrup urine disease    tuberculosis    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for ALDH6A1:
    Succinic semialdehyde dehydrogenase deficiency     Maple syrup urine disease
    Human Genome Epidemiology (HuGE) Navigator: ALDH6A1 (3 documents)

    Export disorders for ALDH6A1 gene to outside databases

    Publications
    for ALDH6A1 gene

    (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. 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)
    4. 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)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyc losome substrate. (PubMed id 21628590)1 Emanuele M.J....Elledge S.J. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1 Eriksson N....Mountain J. (2010)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. 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 Saito A....Kamatani N. (2009)

    External Searches for ALDH6A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing ALDH6A1 gene

    (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

    Other Databases showing ALDH6A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDH6A1 gene

    (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

    Intellectual Property
    for ALDH6A1 gene

    (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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