phosphate cytidylyltransferase 1, choline, alpha
Alias
CCTA | CTA | CTPCT | PCYT1 | SMDCRD
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].