|Human Homolog||INPP5E, inositol polyphosphate-5-phosphatase, 72 kDa|
|NCBI Gene ID||56623|
|Human Synonyms||CORS1, CPD4, JBTS1, MORMS, PPI5PIV|
|Human Chr (Location)||9q34.3; chr9:136428615-136439853 (-) GRCh38|
|Disease Associations||(2) Diseases Associated with Human INPP5E|
Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects.
|Process||dephosphorylation, inositol phosphate dephosphorylation, ...|
|Component||axoneme, cell projection, ...|
|Function||hydrolase activity, inositol-polyphosphate 5-phosphatase activity, ...|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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