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

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