Gene: INPP5K

Alternate names for this Gene: MDCCAID|PPS|SKIP

Gene Summary: This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: inositol polyphosphate-5-phosphatase K

Type of Gene: protein-coding

rs1060505038 in INPP5K gene and MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY PMID 28190459 2017 Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

PMID 28190456 2017 Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

rs939563 in INPP5K gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.