Gene: [05q3/PDE6A] phosphodiesterase 6A, cGMP-specific, rod, alpha; retinal rod photoreceptor cGMP phosphodiesterase, alpha subunit; retinitis pigmentosa (cGMP phosphodiesterase 6A deficiency);
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 | In the retinal rods cGMP-specific
phosphodiesterase 6 is a heterotetrameric protein consisting of catalytic
alpha (88kD), beta (84kD; GEM:04p163/PDE6B),
and two inhibitory gamma subunits (11kD; GEM:17q25/PDE6G)." |
REL | GEM:02q36/PDE6D. |
REF | MUT,PAT "Dryja TP &:
Nature Genet, 13, N3, 358-365, 1996 MUT,PAT "Huang SH &: Nature Genet, 11, 468-471, 1995 LOC,COD,SEQ "Piriyev NI &: Dokl Akad Nauk SSSR, 315, 229-231, 1990 LOC,PRO,COD,SEQ,EVO "Pittler &: Genomics, 6, 272-283, 1990 LOC,COD,SEQ "Tuteja N &: Gene, 88, 227-232, 1990 MAP,LOC "Warrington JA, Bengtsson U: Genomics, 24, 395-398, 1994 |
SWI | SWISSPROT: P16499 |
KEY | nucm, eye, neu, sign, recp, mem |
CLA | coding, basic |
LOC | 05 q31.2-33 |
MIM | MIM: 180071 |
EZN | ENZYME: 3.1.4.17 |
