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This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
[中文简述(自动翻译):]  该基因编码的钾依赖性钠/钙交换蛋白家族的一个成员。所编码的蛋白质起着通过介导一种钙离子和在交换四钠离子1钾离子的挤出在视网膜杆和视锥感光细胞钠/钙交换了重要的作用。在这个基因的突变可能在先天性静止性夜盲的作用。编码多种亚型选择性剪接的转录物变体已经观察到这种基因。 [由RefSeq的,2011年12月提供]
SLC24A1基因(以及对应的蛋白质)的细胞分布位置:
SLC24A1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Night blindness, congenital stationary | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D | 0.12 | 0 | 0 | CLINVAR |
Cerebral Hemorrhage | 0.08 | 1 | 0 | RGD |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Synovial Cyst | 0.000271442 | 1 | 0 | BeFree |
Myxoid cyst | 0.000271442 | 1 | 0 | BeFree |
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