INPP5A

Chr 10

inositol polyphosphate-5-phosphatase A

Also known as: 5PTASE

NCBI Gene: 3632 ENSG00000068383 UniProt: Q14642 OMIM: 600106

The protein is a membrane-associated phosphatase that hydrolyzes inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate, terminating calcium signaling cascades and playing a crucial role in cerebellar Purkinje cell survival. Mutations cause autosomal recessive congenital muscular dystrophy with intellectual disability, cerebellar hypoplasia, and cataracts, typically presenting in infancy with hypotonia and developmental delays. This gene is highly constrained against loss-of-function variants, indicating that complete loss of function is poorly tolerated.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]

OMIM 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)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

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Mechanism