PCYT1A, Official Symbol PCYT1Aprovided by HGNC Official Full Name phosphate cytidylyltransferase 1A, cholineprovided by HGNC Primary source HGNC:HGNC:8754 See related Ensembl:ENSG00000161217 MIM:123695; AllianceGenome:HGNC:8754 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CT; CTA; CCTA; CTPCT; PCYT1; SMDCRD; CCTalpha Summary 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] Expression Ubiquitous expression in duodenum (RPKM 22.3), small intestine (RPKM 20.1) and 25 other tissues See more Orthologs mouse all