PCYT1A
Description
The PCYT1A (phosphate cytidylyltransferase 1A, choline) is a protein-coding gene located on chromosome 3.
Choline-phosphate cytidylyltransferase A is an enzyme that in humans is encoded by the PCYT1A gene.
Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.
PCYT1A is also known as CCTA, CCTalpha, CGL5, CT, CTA, CTPCT, PCYT1, SMDCRD.
Associated Diseases
- Leber congenital amaurosis
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
- Lipodystrophy, congenital generalized, type 5
- Spondylometaphyseal dysplasia with cone-rod dystrophy
