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This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
[中文简述(自动翻译):]  该基因编码一个PHOX(PX)结构域的可能参与突触传递和表皮生长因子的配体诱导的内化和降解蛋白质。在这种基因的变化可以与易感性系统性红斑狼疮(SLE)相关联。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年1月提供]
PXK基因(以及对应的蛋白质)的细胞分布位置:
PXK基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lupus Erythematosus, Systemic | 0.256188161 | 10 | 2 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Rheumatoid Arthritis | 0.125005506 | 3 | 9 | BeFree_CTD_human_GAD |
Systemic Scleroderma | 0.120542884 | 2 | 1 | BeFree_GWASCAT |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
IGA Glomerulonephritis | 0.000271442 | 1 | 0 | BeFree |
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