XB-FEAT-1001243

pcyt1a

This is the community wiki page for the gene pcyt1a please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

summary for human PCYT1A from NCBI

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]

nomenclature changes

03.17.2021 Human name has changed for Entrez Gene: 5130. From phosphate cytidylyltransferase 1, choline, alpha to phosphate cytidylyltransferase 1A, choline