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This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的鸟嘌呤核苷酸 - 结合蛋白的一个成员(G蛋白)的丝氨酸/苏氨酸蛋白激酶家族偶联的受体激酶亚家族。蛋白质磷酸化的视紫红质,并启动其失活。在GRK1缺陷已知会引起大口病2(也称为静止性夜盲大口型-2)。 [由RefSeq的,2008年7月提供]
GRK1基因(以及对应的蛋白质)的细胞分布位置:
GRK1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
OGUCHI DISEASE 2 | 0.32 | 2 | 0 | CLINVAR_MGD_UNIPROT |
Oguchi disease | 0.242442977 | 9 | 0 | BeFree_CTD_human_ORPHANET |
Night blindness, congenital stationary | 0.120542884 | 2 | 0 | BeFree_ORPHANET |
Retinal Diseases | 0.080271442 | 2 | 0 | BeFree_RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Heart failure | 0.08 | 1 | 0 | RGD |
Encephalitis | 0.00272435 | 1 | 0 | LHGDN |
Night Blindness | 0.000542884 | 2 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Retinitis Pigmentosa | 0.000271442 | 1 | 0 | BeFree |
Enhanced S-Cone Syndrome | 0.000271442 | 1 | 0 | BeFree |
LEBER CONGENITAL AMAUROSIS 12 (disorder) | 0.000271442 | 1 | 0 | BeFree |
Amaurosis congenita of Leber, type 1 | 0.000271442 | 1 | 0 | BeFree |
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