Gene Symbol | PCYT1A |
Entrez Gene ID | 5130 |
Full Name | phosphate cytidylyltransferase 1, choline, alpha |
Synonyms | CCTA,CT,CTA,CTPCT,PCYT1,SMDCRD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) |