Gene: [04p163/PDE6B] phosphodiesterase 6B, cGMP-specific, rod, beta; retinal rod photoreceptor cGMP phosphodiesterase, beta subunit; retinitis pigmentosa (cGMP phosphodiesterase 6B deficiency); congenital stationary night blindness 3 (hemeralopia; MIM:163500);
FUN | [1] Retinal
rod photoreceptor cGMP phosphodiesterase plays the key role in
phototransduction. [2] Systematic name: nucleoside 3',5'-cyclic phosphate 5'-nucleotidohydrolase. [3] Catalyzed reaction: nucleoside 3',5'-cyclic phosphate + H(2)O = nucleoside 5'-phosphate. Acts on 3',5'-cyclic GMP." |
FAG | See GEM:05q3/PDE6A. |
REF | LOC,EAG,HUM,MOU "Altherr MR &: Genomics, 12, 750-754, 1992 LOC "Bateman JB &: Genomics, 12, 601-603, 1992 MUT,PAT "Bayes M &: Hum Mut, 5, N3, 228-234, 1995 MUT,PAT "Dryja TP &: Nature Genet, 4, N3, 280-283, 1993 MUT,PAT "Gal A &: Hum Mol Genet, 3, 323-325, 1994a MUT,PAT "Gal A &: Nature Genet, 7, 64-68, 1994b SEQ,STR,GEN "Khramtsov NV &: FEBS Lett, 327, 275-278, 1993 MUT,ASS "McLaughlin ME &: PNAS, 92, 3249-3253, 1995 MUT,ASS "McLaughlin ME &: Nature Genet, 4, 130-134, 1993 MUT,ASS "Riess O &: AJHG, 51, 755-762, 1992a MUT,ASS "Riess O &: Nature Genet, 1, 104-108, 1992b LOC,LIN "Weber B &: Genomics, 11, 1113-1124, 1991a GEN,SEQ "Weber B &: NAR, 19, 6263-6268, 1991b |
SWI | SWISSPROT: P35913 |
KEY | nucm, eye, sign, neu, recp, mem |
CLA | coding, basic |
LOC | 04 p16.3 |
MIM | MIM: 180072 |
EZN | ENZYME: 3.1.4.17 |
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