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Aliases for ALDH6A1 Gene

Aliases for ALDH6A1 Gene

  • Aldehyde Dehydrogenase 6 Family Member A1 2 3 5
  • MMSDH 3 4
  • Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial 3
  • Mitochondrial Acylating Methylmalonate-Semialdehyde Dehydrogenase 3
  • Malonate-Semialdehyde Dehydrogenase [Acylating] 4
  • Aldehyde Dehydrogenase 6 Family, Member A1 2
  • Aldehyde Dehydrogenase Family 6 Member A1 4
  • Malonate-Semialdehyde Dehydrogenase 3
  • Testicular Tissue Protein Li 122 3
  • EC 4
  • EC 4

External Ids for ALDH6A1 Gene

Previous HGNC Symbols for ALDH6A1 Gene


Previous GeneCards Identifiers for ALDH6A1 Gene

  • GC14M072032
  • GC14M068322
  • GC14M072516
  • GC14M073597
  • GC14M074527
  • GC14M054693

Summaries for ALDH6A1 Gene

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. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include poly(A) RNA binding and fatty-acyl-CoA binding. An important paralog of this gene is ALDH1A3.

UniProtKB/Swiss-Prot for ALDH6A1 Gene

  • Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.

Gene Wiki entry for ALDH6A1 Gene

Additional gene information for ALDH6A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH6A1 Gene

Genomics for ALDH6A1 Gene

Regulatory Elements for ALDH6A1 Gene

Enhancers for ALDH6A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H074133 2.1 Ensembl ENCODE 10.9 -50.0 -50026 1.9 HDAC1 PKNOX1 FOXA2 ZFP64 FEZF1 RAD21 YY1 ZNF766 KLF7 OVOL3 LIN52 LOC100506476 ALDH6A1 ENTPD5 GC14P074134 LOC105370563
GH14H074140 1.6 FANTOM5 Ensembl ENCODE 10.7 -56.1 -56079 0.8 PKNOX1 FEZF1 ZNF2 YY1 ZNF121 GLIS2 KLF7 SP3 YY2 TSHZ1 MLH3 YLPM1 ENSG00000258559 ABCD4 LIN52 ENSG00000259138 ELMSAN1 NEK9 ENSG00000258443 ALDH6A1
GH14H073994 1.2 ENCODE dbSUPER 10.1 +87.2 87153 6.2 ELF3 FOXA2 ATF1 MLX ARID4B THRB RAD21 RARA YY1 CREM PTGR2 LIN52 LOC100506476 FAM161B COQ6 ALDH6A1 ENSG00000223300 ENTPD5 BBOF1 RPL41P4
GH14H074217 1.1 Ensembl ENCODE 10.7 -133.5 -133504 0.9 BCOR HDGF CTCF RB1 KLF17 ZMYM3 RAD21 HIC1 E2F1 MTA3 ALDH6A1 LIN52 SYNDIG1L PTGR2 FAM161B ACOT2 LOC105370564 VSX2
GH14H073942 1 Ensembl ENCODE 9.5 +141.2 141227 1.9 GTF2F1 ELF3 ZNF384 CEBPG RFX5 IRF9 CTBP1 GATA3 RCOR1 TRIM24 PTGR2 LOC100506476 ALDH6A1 LIN52 LINC02274 ENTPD5 ENSG00000258891 COQ6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALDH6A1 on UCSC Golden Path with GeneCards custom track

Promoters for ALDH6A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for ALDH6A1 Gene

Genomic Locations for ALDH6A1 Gene
27,644 bases
Minus strand

Genomic View for ALDH6A1 Gene

Genes around ALDH6A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH6A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH6A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH6A1 Gene

Proteins for ALDH6A1 Gene

  • Protein details for ALDH6A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R609
    • B4DFS8
    • J3KNU8
    • Q9UKM8

    Protein attributes for ALDH6A1 Gene

    535 amino acids
    Molecular mass:
    57840 Da
    Quaternary structure:
    • Homotetramer.

    Alternative splice isoforms for ALDH6A1 Gene


neXtProt entry for ALDH6A1 Gene

Post-translational modifications for ALDH6A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH6A1 Gene

No data available for DME Specific Peptides for ALDH6A1 Gene

Domains & Families for ALDH6A1 Gene

Gene Families for ALDH6A1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ALDH6A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH6A1: view

Function for ALDH6A1 Gene

Molecular function for ALDH6A1 Gene

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

Enzyme Numbers (IUBMB) for ALDH6A1 Gene

Phenotypes From GWAS Catalog for ALDH6A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding ISS --
GO:0003723 RNA binding IDA 22658674
GO:0004491 methylmalonate-semialdehyde dehydrogenase (acylating) activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0018478 malonate-semialdehyde dehydrogenase (acetylating) activity ISS --
genes like me logo Genes that share ontologies with ALDH6A1: view
genes like me logo Genes that share phenotypes with ALDH6A1: view

Human Phenotype Ontology for ALDH6A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH6A1 Gene

Localization for ALDH6A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH6A1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH6A1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDH6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS,IDA 1527093
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ALDH6A1: view

Pathways & Interactions for ALDH6A1 Gene

genes like me logo Genes that share pathways with ALDH6A1: view

Gene Ontology (GO) - Biological Process for ALDH6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006210 thymine catabolic process IMP 23835272
GO:0006573 valine metabolic process ISS --
GO:0006574 valine catabolic process IMP 23835272
GO:0008152 metabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
genes like me logo Genes that share ontologies with ALDH6A1: view

No data available for SIGNOR curated interactions for ALDH6A1 Gene

Drugs & Compounds for ALDH6A1 Gene

(15) Drugs for ALDH6A1 Gene - From: DrugBank, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 972
Stiripentol Approved Pharma An LDH inhibitor 9
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma 2
Carbon dioxide Approved, Vet_approved Pharma 0

(40) Additional Compounds for ALDH6A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A

(7) ApexBio Compounds for ALDH6A1 Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with ALDH6A1: view

Drug Products

Transcripts for ALDH6A1 Gene

Unigene Clusters for ALDH6A1 Gene

Aldehyde dehydrogenase 6 family, member A1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH6A1 Gene

No ASD Table

Relevant External Links for ALDH6A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH6A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH6A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH6A1 Gene

This gene is overexpressed in Liver (x4.8) and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for ALDH6A1 Gene

This gene is overexpressed in Kidney (15.6) and Liver (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDH6A1 Gene

Protein tissue co-expression partners for ALDH6A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH6A1 Gene:


SOURCE GeneReport for Unigene cluster for ALDH6A1 Gene:


Evidence on tissue expression from TISSUES for ALDH6A1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Muscle(4.3)
  • Blood(4.2)
  • Skin(4.2)
  • Kidney(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH6A1 Gene

Germ Layers:
  • ectoderm
  • nervous
  • skeleton
Head and neck:
  • brain
  • face
  • head
  • skull
genes like me logo Genes that share expression patterns with ALDH6A1: view

No data available for mRNA Expression by UniProt/SwissProt for ALDH6A1 Gene

Orthologs for ALDH6A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH6A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH6A1 34
  • 100 (a)
(Canis familiaris)
Mammalia ALDH6A1 34 33
  • 93.97 (n)
(Bos Taurus)
Mammalia ALDH6A1 33 34
  • 92.37 (n)
(Rattus norvegicus)
Mammalia Aldh6a1 33
  • 90.9 (n)
(Mus musculus)
Mammalia Aldh6a1 16 34 33
  • 90.71 (n)
(Monodelphis domestica)
Mammalia ALDH6A1 34
  • 89 (a)
(Ornithorhynchus anatinus)
Mammalia ALDH6A1 34
  • 73 (a)
(Gallus gallus)
Aves ALDH6A1 33 34
  • 78.16 (n)
(Anolis carolinensis)
Reptilia ALDH6A1 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh6a1 33
  • 74.95 (n)
Str.11774 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.27081 33
(Danio rerio)
Actinopterygii aldh6a1 33 34
  • 74.55 (n)
Dr.7336 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13788 33
fruit fly
(Drosophila melanogaster)
Insecta EG:171D11.1 35
  • 68 (a)
CG17896 33 34
  • 66.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta MMSA_ANOGA 33
  • 66.2 (n)
(Caenorhabditis elegans)
Secernentea alh-8 33 34
  • 65.45 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH6B2 33
  • 59.76 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10117 33
(Oryza sativa)
Liliopsida Os07g0188800 33
  • 60.92 (n)
Os.1984 33
(Hordeum vulgare)
Liliopsida Hv.1343 33
(Triticum aestivum)
Liliopsida Ta.2907 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1712 34
  • 71 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09266 33
  • 57.1 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3629 33
Species where no ortholog for ALDH6A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ALDH6A1 Gene

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

Paralogs for ALDH6A1 Gene

(10) SIMAP similar genes for ALDH6A1 Gene using alignment to 3 proteins: Pseudogenes for ALDH6A1 Gene

genes like me logo Genes that share paralogs with ALDH6A1: view

Variants for ALDH6A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH6A1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs72552258 Pathogenic, Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105] 74,065,249(-) GAAAT(A/G)GAACT intron-variant, reference, missense, utr-variant-3-prime
rs796065046 Pathogenic 74,072,539(-) ACAAC(C/T)CAGTA intron-variant, reference, missense, utr-variant-5-prime
rs869320672 Pathogenic 74,071,411(-) ATTCC(C/T)ACCGT intron-variant, reference, missense
rs879255579 Pathogenic 74,068,927(-) GGGAT(A/C)CAACA intron-variant, reference, missense
rs1135886 Likely benign 74,060,209(-) CGTGG(C/T)GAAAC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ALDH6A1 Gene

Variant ID Type Subtype PubMed ID
esv3634933 CNV loss 21293372
esv3634932 CNV loss 21293372
esv2759997 CNV gain 17122850
esv2660368 CNV deletion 23128226
esv22046 CNV loss 19812545
dgv1938n100 CNV gain 25217958
dgv1937n100 CNV gain 25217958
dgv1936n100 CNV gain 25217958

Variation tolerance for ALDH6A1 Gene

Residual Variation Intolerance Score: 17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDH6A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH6A1 Gene

Disorders for ALDH6A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ALDH6A1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:10947204}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALDH6A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ALDH6A1: view

No data available for Genatlas for ALDH6A1 Gene

Publications for ALDH6A1 Gene

  1. CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution. (PMID: 1527093) Kedishvili NY … Harris RA (The Journal of biological chemistry 1992) 2 3 4 22 60
  2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. (PMID: 10947204) Chambliss KL … Gibson KM (Journal of inherited metabolic disease 2000) 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 45 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for ALDH6A1 Gene

Sources for ALDH6A1 Gene

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