3-hydroxyacyl-CoA dehydratase 2
3-Hydroxyacyl-CoA Dehydratase 2 (HACD2) is an enzyme that in humans is encoded by the HACD2 gene. This enzyme is part of the fatty acid metabolism pathway and plays a crucial role in the biosynthesis of very long chain fatty acids (VLCFAs).
Function[edit | edit source]
3-Hydroxyacyl-CoA Dehydratase 2 is involved in the third step of the fatty acid elongation process, which is the dehydration of 3-hydroxyacyl-CoA to trans-2,3-enoyl-CoA. This step is essential for the production of VLCFAs, which are important components of several types of lipids, including sphingolipids and phospholipids.
Clinical significance[edit | edit source]
Mutations in the HACD2 gene have been associated with congenital neurological disorders, including spastic paraplegia and leukodystrophy. These disorders are characterized by progressive weakness and stiffness of the legs, and damage to the white matter of the brain, respectively.
See also[edit | edit source]
References[edit | edit source]
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