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Aliases for ALDH6A1 Gene

Aliases for ALDH6A1 Gene

  • Aldehyde Dehydrogenase 6 Family Member A1 2 3 5
  • Malonate-Semialdehyde Dehydrogenase (Acetylating) 2 3
  • 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 Valine, leucine and isoleucine degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include fatty-acyl-CoA binding.

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

GeneHancer (GH) Regulatory Elements for ALDH6A1 Gene

Promoters and enhancers for ALDH6A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J074083 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 -0.4 -418 3.5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 LIN52 PIR52311 ALDH6A1 ZNF410 LOC100506476 ELMSAN1 MLH3 YLPM1 FCF1 PTGR2
GH14J074133 Enhancer 1.4 UCNEbase Ensembl ENCODE 10.9 -50.0 -50026 1.9 HDAC1 PKNOX1 FOXA2 ZFP64 FEZF1 RAD21 YY1 ZNF766 EGR1 KLF7 GC14P074134 LIN52 LOC100506476 ALDH6A1 ENTPD5 LOC105370563
GH14J074140 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.7 -56.1 -56079 0.8 PKNOX1 FEZF1 ZNF2 YY1 ZNF121 GLIS2 ZNF213 KLF7 SP3 RXRA LOC105370563 MLH3 YLPM1 ENSG00000258559 ABCD4 LIN52 ENSG00000259138 ELMSAN1 NEK9 ENSG00000258443
GH14J073994 Enhancer 1.1 ENCODE dbSUPER 10.1 +87.2 87152 6.2 FOXA2 MLX ARID4B ZNF48 YY1 RXRA SP5 REST PPARG KAT8 PTGR2 LIN52 LOC100506476 FAM161B COQ6 ALDH6A1 ENSG00000223300 ENTPD5 BBOF1 RPL41P4
GH14J074217 Enhancer 1 Ensembl ENCODE 10.7 -133.5 -133503 0.9 HDGF RB1 KLF17 IRF4 ZNF48 RAD21 ZNF143 RCOR1 RUNX3 SMARCA5 LOC105370564 ALDH6A1 LIN52 SYNDIG1L PTGR2 FAM161B ACOT2 VSX2 GC14M074212
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH6A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH6A1 gene promoter:
  • c-Myb
  • N-Myc
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • POU6F1 (c2)
  • Ik-3
  • Ik-2
  • HNF-3beta
  • deltaCREB

Genomic Locations for ALDH6A1 Gene

Genomic Locations for ALDH6A1 Gene
27,644 bases
Minus strand
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 Function:
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
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.

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 HDA 22658674
GO:0004491 methylmalonate-semialdehyde dehydrogenase (acylating) activity IEA,TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
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

Animal Model Products

miRNA for ALDH6A1 Gene

miRTarBase miRNAs that target ALDH6A1

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 IDA,NAS 1527093
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA --
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 and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 987
Stiripentol Approved Pharma An LDH inhibitor 9
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma 2

(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
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
  • (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-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
genes like me logo Genes that share compounds with ALDH6A1: view

Transcripts for ALDH6A1 Gene

mRNA/cDNA 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, 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(4.6)
  • 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 34 33
  • 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 34 33
  • 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 34 33
  • 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 34 33
  • 66.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta MMSA_ANOGA 33
  • 66.2 (n)
(Caenorhabditis elegans)
Secernentea alh-8 34 33
  • 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)
Cin.3629 33
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)
Evolutionary constrained regions (ECRs) for ALDH6A1: view image

Paralogs for ALDH6A1 Gene

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

  • G3V4Z4_HUMAN
  • J3KNU8_HUMAN Pseudogenes for ALDH6A1 Gene

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

No data available for Paralogs for ALDH6A1 Gene

Variants for ALDH6A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH6A1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs10146187 uncertain-significance, Methylmalonate semialdehyde dehydrogenase deficiency 74,068,993(-) A/G intron_variant
rs1135885 uncertain-significance, benign, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,239(-) A/C/G 3_prime_UTR_variant
rs1135886 likely-benign, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,209(-) G/A 3_prime_UTR_variant
rs117311919 uncertain-significance, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,408(-) G/A 3_prime_UTR_variant
rs150950908 uncertain-significance, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,333(-) C/G/T 3_prime_UTR_variant

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

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

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)

Additional Variant Information 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, GTR, 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.

Additional Disease Information for ALDH6A1

Genetic Association Database
Human Genome Epidemiology 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 58
  2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. (PMID: 10947204) Chambliss KL … Gibson KM (Journal of inherited metabolic disease 2000) 3 4 22 58
  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 44 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  5. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 44 58

Products for ALDH6A1 Gene

Sources for ALDH6A1 Gene

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