PCYT1B

Chr X

phosphate cytidylyltransferase 1B, choline

Also known as: CCTB, CTB

NCBI Gene: 9468 ENSG00000102230 UniProt: Q9Y5K3

The protein catalyzes the rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis, which is essential for cellular membrane formation. Mutations cause autosomal recessive cone-rod dystrophy with hearing loss, typically presenting in childhood with progressive visual impairment affecting both photoreceptor types and sensorineural deafness. This gene is highly constrained against loss-of-function variants, indicating its critical biological importance.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.40

LOEUF

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Mechanism

Some data sources returned errors (1)

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