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The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是SWI / SNF家族的蛋白质的成员。这个家庭的成员具有解旋酶和ATP酶活性,被认为通过改变周围这些基因的染色质结构调节某些基因的转录。所编码的蛋白质显示序列相似性的大肠杆菌RNA聚合酶结合蛋白HepA瘤。这种基因突变是Schimke immunoosseous发育不良(SIOD)的原因,为常染色体隐性遗传病的诊断?F脊椎骨骺发育不良,肾功能不全,和T细胞免疫的eatures。 [由RefSeq的,2008年7月提供]
SMARCAL1基因(以及对应的蛋白质)的细胞分布位置:
SMARCAL1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schimke immunoosseous dysplasia | 0.566243163 | 23 | 7 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Kidney Failure, Chronic | 0.000542884 | 2 | 0 | BeFree |
Multisystem disorder | 0.000542884 | 2 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000542884 | 2 | 0 | BeFree |
Focal glomerulosclerosis | 0.000271442 | 1 | 0 | BeFree |
Hallervorden-Spatz Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Emphysema | 0.000271442 | 1 | 0 | BeFree |
Undifferentiated carcinoma | 0.000271442 | 1 | 0 | BeFree |
Congenital anomaly of face | 0.000271442 | 1 | 0 | BeFree |
Steroid-resistant nephrotic syndrome | 0.000271442 | 1 | 0 | BeFree |
T-lymphocyte immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | 0.000271442 | 1 | 0 | BeFree |
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