3-Hydroxyacyl-CoA dehydratase 1 (HACD1)

3-Hydroxyacyl-CoA dehydratase 1 (HACD1) is an endoplasmic reticulum-bound enzyme that catalyzes the third reaction (dehydration of 3-hydroxyacyl-CoA to trans-2,3-enoyl-CoA) in the elongation cycle for long- and very-long-chain fatty acids. HACD1 is primarily expressed in skeletal and cardiac muscle and plays a vital role in muscle development, growth, and differentiation, as well as in cementum formation in teeth. Biallelic loss-of-function mutations in HACD1 cause congenital myopathies characterized by reduced muscle mass and strength. HACD1 shares redundant function with HACD2 in fatty acid metabolism, limiting the phenotypic consequences of single gene knockout, but is uniquely crucial for muscle health. It does not currently have validated drug interactions or roles as a biomarker in therapeutic contexts[1][2][3][4].

Other names

Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1PTPLACementum-attachment proteinProtein-tyrosine phosphatase-like member ACAPCMYO11CMYP11MYONPprotein tyrosine phosphatase-like (proline instead of catalytic arginine), member Avery-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 1