CDIPT

Chr 16

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

Also known as: PIS, PIS1

NCBI Gene: 10423 ENSG00000103502 UniProt: O14735

The enzyme catalyzes the biosynthesis of phosphatidylinositol and performs phosphatidylinositol:inositol exchange reactions on the endoplasmic reticulum and Golgi apparatus. Mutations cause autosomal recessive congenital cataracts, facial dysmorphism, and neuropathy (CCFDN), a syndrome presenting in infancy with cataracts, distinctive facial features, progressive peripheral neuropathy, and developmental delays. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq, UniProt

Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

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

—

P/LP missense

0.79

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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