Gene: [06p211/GUCA1A] guanylate cyclase activator 1A (guanylin 1, retina); guanylate cyclase-activating protein, photoreceptor 1 (GCAP1); cone dystrophy 3, autosomal dominant (MIM:602093); [GUCA1 GCAP1 ]


COM

[1] Surguchov-1997 demonstrated that GCAP1 and GCAP2 (GEM:06p211/GUCA1B) are arranged in a tail-to-tail array on Chr 6p21.1.
[2] In a 4-generation British family with typical clinical features of autosomal dominant cone dystrophy Payne-1997 mapped COD3 gene to Chr 6p21.1 with a maximum 2-point lod score of 3.31 for marker D6S282. In the same family Payne-1998 identified a tyr99-to-cys mutation in GUCA1A gene."

HET

About X-linked forms of cone dystrophy see GEM:0Xp113/COD1 and GEM:0Xq27/COD2.

REL

GEM:06p211/GUCA1B; GEM:01p3/GUCA2A; GEM:01p3/GUCA2B.

REF

CLO,SEQ "Knowles JA &: Hum Mol Genet, 3, 1401-1403, 1994
MUT,PAT "Payne AM &: Hum Mol Genet, 7, N2, 273-277, 1998
PAT,LIN,LOC "Payne AM &: AJHG, 61, (Suppl.), A290-290, 1997
CLO,SEQ "Shyjan AW &: Neuron, 9, 727-737, 1992
CLO,SEQ,LOC "Subbaraya I &: JBC, 269, 31080-31089, 1994
CLO,SEQ,LOC "Surguchov A &: Genomics, 39, N3, 312-322, 1997

KEY

nucm, eye

CLA

coding, basic

LOC

06 p21.1

MIM

MIM: 600364

SYN

GUCA1 GCAP1

Смотрите также:

  • cGMP (цГМФ): роль в мембранной биохимии палочек
  • Gene: [11q2/GUCY1A2] guanylate cyclase 1, soluble, alpha 2;