Gene Symbol | PPP1R17 |
Entrez Gene ID | 10842 |
Full Name | protein phosphatase 1 regulatory subunit 17 |
Synonyms | C7orf16,GSBS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | {Hypercholesterolemia, susceptibility to}, 143890 (3) |