AlphaFold predicted structure
HADH · Q16836
Mean pLDDT
96.8/ 100
Very high
314 residues
Confidence breakdown
- Very high(≥ 90)93%
- Confident(70–90)7%
- Low(50–70)0%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HADH
Chr 4q25hydroxyacyl-CoA dehydrogenase
- Aliases:
- HADH1, SCHAD
- MANE:
- ENST00000309522.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital hyperinsulinism
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
0.803-hydroxyacyl-CoA dehydrogenase deficiency
0.78hyperinsulinemic hypoglycemia, familial, 4
0.71long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
0.60hyperinsulinemic hypoglycemia
0.42familial hyperinsulinism
0.33Abnormal brain morphology
0.27Abnormality of limbs
0.26hereditary disease
0.19monogenic diabetes
0.18
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
Mitochondrial fatty acid beta-oxidation enzyme that catalyzes the third step of the beta-oxidation cycle for medium and short-chain 3-hydroxy fatty acyl-CoAs (C4 to C10) (PubMed:10231530, PubMed:11489939, PubMed:16725361). Plays a role in the control of insulin secretion by inhibiting the activation of glutamate dehydrogenase 1 (GLUD1), an enzyme that has an important role in regulating amino acid-induced insulin secretion (By similarity). Plays a role in the maintenance of normal spermatogenesis through the reduction of fatty acid accumulation in the testes (By similarity)
Diseases associated with HADH
Curated MONDO disease pages that list HADH among their top associated genes.