Gene: PPP1R17

Alternate names for this Gene: C7orf16|GSBS

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: protein phosphatase 1 regulatory subunit 17

Type of Gene: protein-coding

Gene: PDE1C

Alternate names for this Gene: DFNA74|Hcam3|cam-PDE 1C|hCam-3

Gene Summary: This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: phosphodiesterase 1C

Type of Gene: protein-coding