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The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是肌聚糖复合物,它是抗肌萎缩蛋白糖蛋白复合物(DGC)的亚复合的四个已知的部件中的一个。 DGC形成F-肌动蛋白细胞骨架和细胞外基质之间的链接。这种蛋白质被表达在骨骼肌和心肌最丰富。在这种基因突变与常染色体隐性遗传肢带型肌营养不良症和扩张性心肌病相关联。编码不同同种型的可变剪接转录物变体已经观察到这种基因。 [由RefSeq的,2008年7月提供]
SGCD基因(以及对应的蛋白质)的细胞分布位置:
SGCD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Limb-girdle muscular dystrophy type 2F | 0.560814326 | 4 | 6 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
CARDIOMYOPATHY, DILATED, 1L | 0.44 | 1 | 1 | CLINVAR_CTD_human_MGD_UNIPROT |
Cardiomyopathies | 0.121900093 | 8 | 1 | BeFree_CTD_human |
Allergy to eggs | 0.12 | 1 | 1 | GWASCAT |
Muscular Dystrophies, Limb-Girdle | 0.006524536 | 14 | 1 | BeFree_LHGDN |
Hypertrophic Cardiomyopathy | 0.00617715 | 4 | 0 | BeFree_GAD_LHGDN |
Cardiomyopathy, Dilated | 0.005352893 | 12 | 1 | BeFree_GAD |
Blood pressure finding | 0.004734064 | 1 | 3 | GAD |
Systemic arterial pressure | 0.004734064 | 1 | 3 | GAD |
Heart failure | 0.003724241 | 5 | 1 | BeFree_GAD |
Coronary Artery Vasospasm | 0.002909916 | 2 | 0 | BeFree_GAD |
Spasm | 0.00272435 | 1 | 0 | LHGDN |
Angina Pectoris | 0.002367032 | 1 | 0 | GAD |
Squamous cell carcinoma | 0.002367032 | 1 | 0 | GAD |
Esophageal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Congestive heart failure | 0.001357209 | 5 | 0 | BeFree |
Muscular Dystrophy | 0.001085767 | 4 | 0 | BeFree |
Sarcoglycanopathies | 0.001085767 | 4 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000542884 | 2 | 0 | BeFree |
Familial dilated cardiomyopathy | 0.000542884 | 2 | 0 | BeFree |
Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
Spastic | 0.000271442 | 1 | 0 | BeFree |
Sleep Apnea, Obstructive | 0.000271442 | 1 | 1 | BeFree |
cardiac symptom | 0.000271442 | 1 | 0 | BeFree |
Duchenne and Becker Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
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