PCYT1B (Phosphate Cytidylyltransferase 1, Choline, Beta) encodes the enzyme choline phosphate cytidylyltransferase beta, which catalyzes the rate-limiting step in phosphatidylcholine (PC) biosynthesis. This gene is located on chromosome Xq13.1 and is expressed primarily in the brain, particularly in neurons and glial cells.
| Attribute | Value |
|---|---|
| Gene Symbol | PCYT1B |
| Full Name | Phosphate Cytidylyltransferase 1, Choline, Beta |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 9468 |
| Ensembl ID | ENSG00000102265 |
| UniProt ID | Q9Y5K6 |
| Associated Diseases | X-linked intellectual disability, lipid metabolism disorders |
PCYT1B encodes choline phosphate cytidylyltransferase (CCT-beta), a key regulatory enzyme in the CDP-choline pathway for phosphatidylcholine synthesis. Phosphatidylcholine is a major phospholipid in eukaryotic cell membranes, particularly abundant in neuronal membranes and myelin sheaths.
The enzyme catalyzes the conversion of phosphocholine to CDP-choline, which then combines with diacylglycerol to form phosphatidylcholine. This process is essential for:
PCYT1B is highly expressed in:
Mutations in PCYT1B have been associated with:
PCYT1B represents a potential therapeutic target for: