Gene: [13q34/RHOK] rhodopsin kinase; G-protein-dependent receptor kinase 1; Oguchi disease (stationary nightblindness; MIM:258100);


CAG

The Oguchi type of stationary nightblindness is genetically heterogeneous disease arised due to mutations in the gene encoding rhodopsin kinase gene (this locus) and arrestin gene (GEM:02q371/SAG)."

REF

LOC "Khani SC &: Genomics, 35, N3, 571-576, 1996
CLO,SEQ,STR "Lorenz W &: PNAS, 88, 8715-8719, 1991
MUT "Yamamoto S &: Nature Genet, 15, 175-178, 1997

SWI

 SWISSPROT: Q15835

CLA

coding, basic

LOC

13 q34

MIM

 MIM: 180381

EZN

 ENZYME: 2.7.1.125