Gene: INPPL1

Alternate names for this Gene: OPSMD|SHIP2

Gene Summary: The protein encoded by this gene is an SH2-containing 5'-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.4

Description of this Gene: inositol polyphosphate phosphatase like 1

Type of Gene: protein-coding

rs11548491 in INPPL1 gene and Cerebrovascular accident PMID 23422753 2013 Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.

rs397514508 in INPPL1 gene and Opsismodysplasia PMID 23273567 2013 Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

PMID 23273569 2013 Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.