PCYT1A

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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