Gene: [02q371/SAG] S-antigen (retinal and pineal protein 45 kD; arrestin S); arrestin S (S-antigen); 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 arrestin gene (this locus) and rhodopsin kinase gene (GEM:13q34/RHOK)." |
ASS | Genetic relationship between SAG gene and autoimmune uveitis is presumed (Shinohara-1990)." |
REF | PRO,CLO,LOC "Calabrese
G &: Genomics, 23, 286-288, 1994 MUT "Fuchs S &: Nature Genet, 10, 360-362, 1995 PRO,CLO,LOC "Lu-Kuo J &: Genomics, 16, 173-179, 1993 MUT "Maw MA &: J Med Genet, 32, 396-398, 1995 PRO,CLO,LOC "Ngo JT &: Genomics, 7, 84-87, 1990 LIN,PAT "Shinohara &: Exp Eye Res, 50, N6, 751-758, 1990 LIN,LOC "Valverde D &: Hum Genet, 94, 193-194, 1994 CLO,SEQ,STR "Yamaki K &: JBC, 265, 20757-20762, 1990 |
SWI | SWISSPROT: P10523 |
KEY | neu, eye |
CLA | coding, basic |
LOC | 02 q37.1 |
MIM | MIM: 181031 |
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