3-hydroxyacyl-CoA dehydratase 1
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Diagnostic Grade (Green)
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalcongenital myopathy 11
congenital myopathy
congenital myopathy with cores
congenital fiber-type disproportion myopathy
hereditary disease
retinitis pigmentosa
Cone rod dystrophy
Progressive cone dystrophy
Familial exudative vitreoretinopathy
angioma serpiginosum
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators
HACD1 · B0YJ81
Mean pLDDT
75.1/ 100
Confident
288 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
