Gene Symbol | INPP5K |
Entrez Gene ID | 51763 |
Full Name | inositol polyphosphate-5-phosphatase K |
Synonyms | MDCCAID,PPS,SKIP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3) |