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This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因编码肌营养不良蛋白糖蛋白复合物(DGC),这是对肌纤维膜的稳定性和肌动蛋白细胞骨架的细胞外基质的连接临界的一个组成部分。其表达被认为只限于横纹肌。突变在该基因的结果在类型2D常染色体隐性肢带型肌营养不良症。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2008年10月提供]
SGCA基因(以及对应的蛋白质)的细胞分布位置:
SGCA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alpha-Sarcoglycanopathies | 0.323800186 | 18 | 3 | BeFree_MGD_ORPHANET_UNIPROT |
Sarcoglycanopathies | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Muscular Dystrophies, Limb-Girdle | 0.006795978 | 16 | 1 | BeFree_LHGDN |
Muscular Dystrophy | 0.004885954 | 18 | 0 | BeFree |
Respiratory Insufficiency | 0.00272435 | 1 | 0 | LHGDN |
Severe childhood autosomal recessive muscular dystrophy | 0.002714419 | 10 | 0 | BeFree |
Myopathy | 0.001357209 | 5 | 0 | BeFree |
Muscle Weakness | 0.000814326 | 3 | 0 | BeFree |
Becker Muscular Dystrophy | 0.000814326 | 3 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000542884 | 2 | 0 | BeFree |
Paresis | 0.000542884 | 2 | 0 | BeFree |
Protein Deficiency | 0.000542884 | 2 | 0 | BeFree |
Chronic Neutrophilic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Scoliosis, unspecified | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma, Embryonal | 0.000271442 | 1 | 0 | BeFree |
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | 0.000271442 | 1 | 0 | BeFree |
Congenital scoliosis | 0.000271442 | 1 | 0 | BeFree |
Acquired scoliosis | 0.000271442 | 1 | 0 | BeFree |
FRAGILE X TREMOR/ATAXIA SYNDROME | 0.000271442 | 1 | 0 | BeFree |
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