Anti-PCY1A

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. [provided by RefSeq, Aug 2015], Protein function: Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis. [The UniProt Consortium] Recommended dilutions: WB 1:500-2000 ELISA 1:5000-20000. Cellular localization: Cytoplasm, cytosol . Membrane , Peripheral membrane protein . Endoplasmic reticulum . Nucleus . It can interconvert between an inactive cytosolic form and an active membrane-bound form. .