Anti-PCYT1A

This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. Protein function: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. [The UniProt Consortium]