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This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
[中文简述(自动翻译):]  此基因代表蛋白质的formin家族的一个成员。它被认为是一个透明的formin由于位于所编码的蛋白质的N-末端的透明的抑制性结构域的存在。类似小鼠蛋白的研究表明,由该位点编码的蛋白质可在聚合和肌动蛋白丝的解聚作用。在这个位点突变与局灶节段性肾小球硬化5 [由RefSeq的,2010年8月提供]关联
INF2基因(以及对应的蛋白质)的细胞分布位置:
INF2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Focal Segmental Glomerulosclerosis 5 | 0.36 | 5 | 5 | CLINVAR_CTD_human_UNIPROT |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | 0.36 | 4 | 5 | CLINVAR_ORPHANET_UNIPROT |
Focal glomerulosclerosis | 0.123257302 | 12 | 0 | BeFree_CTD_human |
Charcot-Marie-Tooth Disease | 0.002714419 | 10 | 0 | BeFree |
Segmental glomerulosclerosis | 0.001628651 | 6 | 0 | BeFree |
Neuropathy | 0.001357209 | 5 | 0 | BeFree |
Kidney Diseases | 0.001085767 | 4 | 0 | BeFree |
Renal glomerular disease | 0.000814326 | 3 | 0 | BeFree |
Kidney Failure, Chronic | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Renal dysplasia and retinal aplasia (disorder) | 0.000271442 | 1 | 0 | BeFree |
Inherited neuropathies | 0.000271442 | 1 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000271442 | 1 | 0 | BeFree |
Autosomal dominant focal segmental glomerulosclerosis | 0.000271442 | 1 | 0 | BeFree |
2,8-Dihydroxyadenine Urolithiasis | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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