PITPNA

Chr 17

phosphatidylinositol transfer protein alpha

Also known as: HEL-S-36, PI-TPalpha, PITPN, VIB1A

NCBI Gene: 5306 ENSG00000174238 UniProt: Q00169 OMIM: 600174

This gene encodes a lipid transfer protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between cellular membranes, with preference for shorter saturated or monounsaturated acyl chains. The protein is involved in phospholipase C signaling and phosphatidylinositol 3,4,5-trisphosphate production by phosphoinositide-3-kinase. No disease associations are currently established for mutations in this gene based on the provided information.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

OMIM ResearchGenerating clinical summary…

LOEUF 0.33

Clinical Summary— PITPNA

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.

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