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This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):] 该基因编码的肿瘤坏死因子受体家族的一个成员。所编码的跨膜蛋白为可溶性配体ectodysplasin A中的受体,并且可以激活核因子-κB,JNK和胱天蛋白酶非依赖性细胞死亡途径。它需要的毛发,牙齿,以及其他外胚层衍生的发展。突变这个基因导致少汗型外胚层发育不良的常染色体显性和隐性形式。 [由RefSeq的,2008年7月提供]
EDAR基因(以及对应的蛋白质)的细胞分布位置:
EDAR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | 0.362171535 | 8 | 8 | BeFree_CLINVAR_CTD_human_ORPHANET |
Ectodermal Dysplasia 3, Anhidrotic | 0.24 | 0 | 1 | CLINVAR_CTD_human |
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | 0.2 | 6 | 0 | MGD_UNIPROT |
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) | 0.12 | 0 | 0 | ORPHANET |
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | 0.12 | 1 | 0 | UNIPROT |
Ectodermal Dysplasia | 0.008987376 | 6 | 0 | BeFree_LHGDN |
Christ-Siemens-Touraine syndrome | 0.004614512 | 17 | 0 | BeFree |
Alzheimer's Disease | 0.002367032 | 1 | 1 | GAD |
Hypodontia | 0.001085767 | 4 | 0 | BeFree |
Tooth Loss | 0.000814326 | 3 | 0 | BeFree |
Developmental absence of tooth | 0.000814326 | 3 | 0 | BeFree |
Anhydrotic Ectodermal Dysplasias | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of face | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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