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],CCTA, CT, CTA, CTPCT, PCYT1, SMDCRD,Cancer,Endocrine & Metabolism,Lipid Metabolism,Neuroscience,Signal Transduction,PCYT1A