Gene: GRK1

Alternate names for this Gene: GPRK1|RHOK|RK

Gene Summary: This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2).

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: G protein-coupled receptor kinase 1

Type of Gene: protein-coding

rs75779304 in GRK1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs570621429 in GRK1 gene and OGUCHI DISEASE 2 PMID 17070587 2007 A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

PMID 9020843 1997 Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.