Aliases for PCYT1A Gene
External Ids for PCYT1A Gene
Previous HGNC Symbols for PCYT1A Gene
Previous GeneCards Identifiers for PCYT1A Gene
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]
GeneCards Summary for PCYT1A Gene
PCYT1A (Phosphate Cytidylyltransferase 1, Choline, Alpha) is a Protein Coding gene. Diseases associated with PCYT1A include Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy and Cone-Rod Dystrophy. Among its related pathways are Glycerophospholipid biosynthesis and Phospholipase D signaling pathway. GO annotations related to this gene include protein homodimerization activity and choline-phosphate cytidylyltransferase activity. An important paralog of this gene is PCYT1B.
UniProtKB/Swiss-Prot for PCYT1A Gene
Controls phosphatidylcholine synthesis.