| GENE NAME | PCYT1A |
| CHROMOSOME | 3 |
| ENSEMBL ID | ENSG00000161217 |
| ENTREZ ID | 5130 |
| UNIPROT ACCESSION NUMBER | P49585 |
| GO MOLECULAR FUNCTION | transferase activity; phosphatidylcholine binding; catalytic activity; nucleotidyltransferase activity; choline-phosphate cytidylyltransferase activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-1483257; hsa05231; hsa00564; hsa01100; R-HSA-556833; hsa00440; R-HSA-1483206; R-HSA-1430728; R-HSA-1483191 |
| 2 combinations linked to PCYT1A | OLI696; OLI733 |
| 2 variants linked to PCYT1A | PCYT1A:c.884C>T, p.Pro295Leu; PCYT1A:c.556A>G, p.Lys186Glu |
| 1 disease linked to PCYT1A | Isolated anencephaly |