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 sem... See more...

Aliases for ALDH6A1 Gene

Aliases for ALDH6A1 Gene

  • Aldehyde Dehydrogenase 6 Family Member A1 2 3 5
  • Methylmalonate-Semialdehyde Dehydrogenase [Acylating], Mitochondrial 3 4
  • Malonate-Semialdehyde Dehydrogenase (Acetylating) 2 3
  • MMSDH 3 4
  • 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 1.2.1.18 4
  • EC 1.2.1.27 4
  • MMSADHA 3
  • ALDH6A1 5

External Ids for ALDH6A1 Gene

Previous HGNC Symbols for ALDH6A1 Gene

  • MMSDH

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 Gamma-Amino Butyric Acid Metabolism Disorder. Among its related pathways are beta-Alanine metabolism (KEGG) and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include fatty-acyl-CoA binding. An important paralog of this gene is ALDH1A3.

UniProtKB/Swiss-Prot Summary for ALDH6A1 Gene

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

Gene Wiki entry for ALDH6A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH6A1 Gene

Genomics for ALDH6A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALDH6A1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH6A1

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

Genomic Locations for ALDH6A1 Gene

Genomic Locations for ALDH6A1 Gene
chr14:74,056,847-74,084,492
(GRCh38/hg38)
Size:
27,646 bases
Orientation:
Minus strand
chr14:74,523,553-74,551,196
(GRCh37/hg19)
Size:
27,644 bases
Orientation:
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:
    Q02252-MMSA_HUMAN
    Recommended name:
    Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
    Protein Accession:
    Q02252
    Secondary Accessions:
    • B2R609
    • B4DFS8
    • J3KNU8
    • Q9UKM8

    Protein attributes for ALDH6A1 Gene

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

    Alternative splice isoforms for ALDH6A1 Gene

    UniProtKB/Swiss-Prot:

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

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

Protein Domains for ALDH6A1 Gene

InterPro:
Blocks:
  • Aldehyde dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH6A1 Gene

GenScript: Design optimal peptide antigens:
  • Aldehyde dehydrogenase family 6 member A1 (MMSA_HUMAN)
  • Methylmalonate semialdehyde dehydrogenase (O43573_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02252

UniProtKB/Swiss-Prot:

MMSA_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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:
Reaction=2-methyl-3-oxopropanoate + CoA + H2O + NAD(+) = H(+) + hydrogencarbonate + NADH + propanoyl-CoA; Xref=Rhea:RHEA:20804, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:57287, ChEBI:CHEBI:57392, ChEBI:CHEBI:57540, ChEBI:CHEBI:57700, ChEBI:CHEBI:57945; EC=1.2.1.27;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-oxopropanoate + CoA + NAD(+) = acetyl-CoA + CO2 + NADH; Xref=Rhea:RHEA:22992, ChEBI:CHEBI:16526, ChEBI:CHEBI:33190, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.18;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-oxopropanoate + CoA + NADP(+) = acetyl-CoA + CO2 + NADPH; Xref=Rhea:RHEA:22988, ChEBI:CHEBI:16526, ChEBI:CHEBI:33190, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.2.1.18;.

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

CRISPR Products

miRNA for ALDH6A1 Gene

miRTarBase miRNAs that target ALDH6A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH6A1

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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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
mitochondrion 5
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

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 --
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 IBA,ISS --
GO:0006574 valine catabolic process IMP 23835272
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0019859 thymine metabolic process ISS --
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

(17) Drugs for ALDH6A1 Gene - From: DrugBank, ApexBio, 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 0
Stiripentol Approved Pharma An LDH inhibitor 11
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma 2

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-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-)
4460-95-1
(2E)-Octenoyl-CoA
  • (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
10018-94-7
(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
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4

(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

mRNA/cDNA for ALDH6A1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH6A1

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

No ASD Table

Relevant External Links for ALDH6A1 Gene

GeneLoc Exon Structure for
ALDH6A1

Expression for ALDH6A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH6A1

SOURCE GeneReport for Unigene cluster for ALDH6A1 Gene:

Hs.293970

Evidence on tissue expression from TISSUES for ALDH6A1 Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Muscle(4.5)
  • Blood(4.4)
  • Skin(4.4)
  • Kidney(3.8)
  • Heart(2.7)
  • Intestine(2.4)
  • Pancreas(2.3)
  • Thyroid gland(2.2)
  • Stomach(2.2)
  • Eye(2)

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

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeleton
Regions:
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
Chimpanzee
(Pan troglodytes)
Mammalia ALDH6A1 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ALDH6A1 30 31
  • 93.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALDH6A1 30 31
  • 92.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aldh6a1 30
  • 90.9 (n)
Mouse
(Mus musculus)
Mammalia Aldh6a1 30 17 31
  • 90.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ALDH6A1 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ALDH6A1 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ALDH6A1 30 31
  • 78.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALDH6A1 31
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aldh6a1 30
  • 74.95 (n)
Str.11774 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.27081 30
Zebrafish
(Danio rerio)
Actinopterygii aldh6a1 30 31
  • 74.55 (n)
OneToOne
Dr.7336 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13788 30
Fruit Fly
(Drosophila melanogaster)
Insecta EG:171D11.1 32
  • 68 (a)
CG17896 30 31
  • 66.67 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta MMSA_ANOGA 30
  • 66.2 (n)
Worm
(Caenorhabditis elegans)
Secernentea alh-8 30 31
  • 65.45 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ALDH6B2 30
  • 59.76 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10117 30
Rice
(Oryza sativa)
Liliopsida Os07g0188800 30
  • 60.92 (n)
Os.1984 30
Barley
(Hordeum vulgare)
Liliopsida Hv.1343 30
Wheat
(Triticum aestivum)
Liliopsida Ta.2907 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1712 31
  • 71 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU09266 30
  • 57.1 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3629 30
Species where no ortholog for ALDH6A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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

ENSEMBL:
Gene Tree for ALDH6A1 (if available)
TreeFam:
Gene Tree for ALDH6A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH6A1: view image

Paralogs for ALDH6A1 Gene

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

  • MMSA_HUMAN
  • G3V4Z4_HUMAN
  • J3KNU8_HUMAN

Pseudogenes.org Pseudogenes for ALDH6A1 Gene

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

Variants for ALDH6A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH6A1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
710038 Benign: not provided 74,072,530(-) C/T INTRON_VARIANT
711610 Benign: Methylmalonate semialdehyde dehydrogenase deficiency; not provided 74,064,870(-) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
717687 Likely Benign: not provided 74,072,614(-) G/GA INTRON_VARIANT
718127 Benign: not provided 74,072,620(-) AAC/A INTRON_VARIANT
720172 Likely Benign: not provided 74,068,853(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ALDH6A1 Gene

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)
ALDH6A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH6A1

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

Disorders for ALDH6A1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ALDH6A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methylmalonate semialdehyde dehydrogenase deficiency
  • mmsdhd
gamma-amino butyric acid metabolism disorder
  • disorder of gamma-aminobutyric acid metabolism
hyperprolinemia
  • proline oxidase deficiency
succinic semialdehyde dehydrogenase deficiency
  • ssadhd
mast syndrome
  • spastic paraplegia 21, autosomal recessive; spg21
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MMSA_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  2. Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. (PMID: 10947204) Chambliss KL … Gibson KM (Journal of inherited metabolic disease 2000) 3 4 23
  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 41
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. Web-based, participant-driven studies yield novel genetic associations for common traits. (PMID: 20585627) Eriksson N … Mountain J (PLoS genetics 2010) 3 41

Products for ALDH6A1 Gene

  • Signalway Proteins for ALDH6A1

Sources for ALDH6A1 Gene