OACYLP
Description
The OACYLP (O-acyltransferase like, pseudogene) is a pseudo gene located on chromosome 18.
OACYLP is a human gene that encodes a protein involved in the biosynthesis of coenzyme Q10 (CoQ10), also known as ubiquinone. CoQ10 is an essential electron carrier in the mitochondrial respiratory chain and plays a vital role in energy production. Mutations in OACYLP can lead to CoQ10 deficiency, resulting in various clinical manifestations, including encephalopathy, myopathy, and cardiomyopathy.
OACYLP is a member of the cystathionine beta-synthase family of enzymes and is involved in the biosynthesis of coenzyme Q10 (CoQ10), also known as ubiquinone, an essential electron carrier in the mitochondrial respiratory chain. It catalyzes the condensation of 4-hydroxybenzoic acid (4-HB) with polyprenyl diphosphate (polyprenyl-PP) to form 4-hydroxybenzoic acid polyprenyl diphosphate (4-HBPP). This reaction is the first committed step in the biosynthesis of CoQ10. Mutations in OACYLP can lead to deficiency in CoQ10 biosynthesis, resulting in various clinical manifestations, including encephalopathy, myopathy, and cardiomyopathy.
OACYLP is also known as ACYL3P.
