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PCYT1A

Official Full Name
phosphate cytidylyltransferase 1A, choline
Organism
Homo sapiens
GeneID
5130
Background
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]
Synonyms
CT; CTA; CCTA; CGL5; CTPCT; PCYT1; SMDCRD; CCTalpha;

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