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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AASDH
aminoadipate-semialdehyde dehydrogenase
Chromosome 4 · 4q12
NCBI Gene: 132949Ensembl: ENSG00000157426.14HGNC: HGNC:23993UniProt: B4DFZ3
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
fatty acid metabolic processcervicitisgoutheart conduction diseasetype 2 diabetes mellitus
✦AI Summary

AASDH (aminoadipate-semialdehyde dehydrogenase) is an acyl-CoA synthetase family member involved in fatty acid and amino acid metabolism. The protein contains an AMP-binding domain and phosphopantetheine-binding domain 1, enabling covalent binding of beta-alanine in an ATP-dependent manner to form a thioester bond, with potential roles in post-translational protein modification or RNA modification. AASDH participates in lipid metabolic processes 2 and is ubiquitously expressed across tissues 1. Clinically, AASDH variants have been identified as novel genetic candidates associated with childhood-onset cardiomyopathy in consanguineous populations, with homozygous variants detected in affected individuals 3. Additionally, AASDH has been identified as a potential microsatellite instability (MSI) target gene in colorectal cancer 4, suggesting involvement in cancer-associated pathways. Notably, AASDH variants were enriched in glioblastoma cells showing reversible temozolomide chemotherapy response 5, implicating dysregulation in chemotherapy resistance. While AASDH is distinct from ALDH7A1 (which causes pyridoxine-dependent epilepsy) 6, the gene's role in metabolic pathways affecting cancer development and cardiomyopathy warrants further investigation as a potential therapeutic target.

Sources cited
1
AASDH contains AMP-binding domain, phosphopantetheine-binding domain, and is ubiquitously expressed in tissues
PMID: 15865210
2
AASDH participates in lipid metabolic processes as part of the acyl-CoA synthetase family
PMID: 36160020
3
Homozygous AASDH variants identified as novel candidate gene in childhood-onset cardiomyopathy
PMID: 32870709
4
AASDH identified as microsatellite instability target gene in colorectal cancer
PMID: 28611049
5
AASDH variants enriched in glioblastoma cells showing reversible temozolomide response
PMID: 25604826
6
AASDH is distinct from ALDH7A1, which causes pyridoxine-dependent epilepsy
PMID: 32339489
Disease Associationsⓘ20
cervicitisOpen Targets
0.29Weak
goutOpen Targets
0.29Weak
heart conduction diseaseOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.06Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
oropharynx cancerOpen Targets
0.04Suggestive
disorder of earOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
prostate carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
hematologic diseaseOpen Targets
0.02Suggestive
infectionOpen Targets
0.01Suggestive
pyridoxine-dependent epilepsyOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
amyotrophic lateral sclerosisOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CYP4B1Shared pathway100%PCCAShared pathway100%ECHDC3Shared pathway100%ACBD4Shared pathway100%ACBD7Shared pathway100%PALB2Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
91%
Liver
79%
Lung
59%
Heart
58%
Brain
57%
Gene Interaction Network
Click a node to explore
AASDHCYP4B1PCCAECHDC3ACBD4ACBD7PALB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q4L235
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.64–0.95]
RankingsWhere AASDH stands among ~20K protein-coding genes
  • #14,624of 20,598
    Most Researched18
  • #8,835of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedAASDH
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 40750406
1.00
2
Identification of ACSF gene family as therapeutic targets and immune-associated biomarkers in hepatocellular carcinoma.
PMID: 36205594
Aging (Albany NY) · 2022
0.90
3
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
PMID: 32870709
Circ Genom Precis Med · 2020
0.80
4
Genome-wide analysis of the acyl-coenzyme A synthetase family and their association with the formation of goat milk flavour.
PMID: 36160020
Front Genet · 2022
0.70
5
Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer.
PMID: 28611049
Cancer Res · 2017
0.60