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This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是钾依赖性钠/钙交换体家族的成员,并编码具有2个大的亲水环和2台多跨膜片段的胞内的膜蛋白。该基因序列变异已与皮肤色素沉着差异有关。 [由RefSeq的,2008年7月提供]
SLC24A5基因(以及对应的蛋白质)的细胞分布位置:
SLC24A5基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Skin/Hair/Eye Pigmentation, Variation In, 4 | 0.12 | 0 | 0 | ORPHANET |
Schizophrenia | 0.004734064 | 2 | 0 | GAD |
Albinism, Oculocutaneous | 0.002638474 | 2 | 0 | BeFree_GAD |
Basal cell carcinoma | 0.002367032 | 1 | 0 | GAD |
Squamous cell carcinoma | 0.002367032 | 1 | 0 | GAD |
melanoma | 0.002367032 | 1 | 0 | GAD |
Skin Neoplasms | 0.002367032 | 1 | 0 | GAD |
Skin pigmentation - finding | 0.002367032 | 1 | 1 | GAD |
Kidney Failure, Chronic | 0.000271442 | 1 | 5 | BeFree |
Kidney Failure | 0.000271442 | 1 | 5 | BeFree |
Hantavirus Infections | 0.000271442 | 1 | 0 | BeFree |
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