| Protein Name | phosphate cytidylyltransferase 1A, choline |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5130 |
| Gene Symbol | PCYT1A |
| UniProt | P49585 (PCY1A_HUMAN), B4E322 (B4E322_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
50
Total Number of Articles : 49 |
Description |
phosphate cytidylyltransferase 1A, choline |
| Gene 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] |
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