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Article

INPPL1 gene mutations in opsismodysplasia.

Journal of human genetics - 1 Feb 2017

Fradet Anaïs, Fitzgerald Jamie

Abstract excerpt

The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the area of insulin resistance and obesity but has roles in cancer and other disorders. Recently, it...

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Source

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Identifiers

PMID: 27708270
DOI: 10.1038/jhg.2016.119
PMCID: PMC5268411

Genes

INPPL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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INPPL1 gene mutations in opsismodysplasia.PMID 27708270Read ↗

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Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.Semantic proximity Read ↗

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Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.Semantic proximity Read ↗

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