更多...
收起
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
[中文简述(自动翻译):]  该基因属于protocadherin基因家族,钙粘着蛋白超家族的亚家族。所编码的蛋白质由包含7钙粘蛋白重复序列??,跨膜结构域,并且从那些经典钙黏着蛋白的不同之处胞质尾的胞外域的。该基因位于同源性和其y同源的一个主要的X / Y块,尽管发散导致编码区的变化,是最密切??相关的钙粘蛋白家族成员。该蛋白被认为在细胞 - 细胞识别为节段性发育和功能的中枢神经系统的必不可少的基本??作用。这种基因的破坏可发展性阅读障碍有关。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年6月提供]
PCDH11X基因(以及对应的蛋白质)的细胞分布位置:
PCDH11X基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alzheimer's Disease | 0.249825446 | 3 | 2 | CTD_human_GAD_GWASCAT_LHGDN |
Language Development Disorders | 0.000271442 | 1 | 0 | BeFree |
Psychotic Disorders | 0.000271442 | 1 | 0 | BeFree |
Schizoaffective Disorder | 0.000271442 | 1 | 0 | BeFree |
Turner Syndrome | 0.000271442 | 1 | 0 | BeFree |
Ovarian Failure, Premature | 0.000271442 | 1 | 0 | BeFree |
Nonorganic psychosis | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。