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 |
