PCYT1B

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Description

The PCYT1B (phosphate cytidylyltransferase 1B, choline) is a protein-coding gene located on chromosome X.

Choline-phosphate cytidylyltransferase B is an enzyme that in humans is encoded by the PCYT1B gene.

Isoform 1 catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis.

PCYT1B is also known as CCTB, CTB.

Associated Diseases

• cancer
• 46,XX testicular disorder of sex development
• 46,XY complete gonadal dysgenesis
• isolated congenital hypogonadotropic hypogonadism
• male infertility with teratozoospermia due to single gene mutation
• premature ovarian failure 18
• spermatogenic failure, X-linked, 2
• Perrault syndrome
• spermatogenic failures 50
• partial chromosome Y deletion
• ring chromosome Y
• spermatogenic failure 25
• 46,XX ovotesticular disorder of sex development