更多...
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):] 这个基因编码促进的Rho亚家族成员的GTP水解的Rho-GTP酶激活蛋白。的Rho蛋白是细胞内信号传导,从而影响细胞迁移和细胞形态的重要介质。在这个基因的突变是负责与小脑发育不全和独特的面部dysmorhphism OPHN1有关的X连锁智力低下。 [由RefSeq的,2008年7月提供]
OPHN1基因(以及对应的蛋白质)的细胞分布位置:
OPHN1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | 0.44 | 0 | 2 | CLINVAR_CTD_human_MGD_ORPHANET |
Mental Retardation, X-Linked | 0.125710211 | 11 | 0 | BeFree_CTD_human_LHGDN |
Mental Retardation | 0.005081451 | 10 | 0 | BeFree_GAD |
Intellectual Disability | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Cerebellar Hypoplasia | 0.001900093 | 7 | 0 | BeFree |
Mental Retardation, X-Linked 1 | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Ataxia | 0.000271442 | 1 | 0 | BeFree |
Colorectal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Impaired cognition | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 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。