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Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010]
[中文简述(自动翻译):]  心肌肌球蛋白是由两个重链亚基,二轻链亚基和两个调节亚基的六聚体。该基因编码心肌肌球蛋白的α重链亚基。该基因位于?4KB编码心肌肌球蛋白的beta重链亚基基因的下游。这种基因的突变导致家族性肥厚型心肌病和房间隔缺损3. [由RefSeq的,2010年3月提供]
MYH6基因(以及对应的蛋白质)的细胞分布位置:
MYH6基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Cardiomyopathy, Familial Hypertrophic, 14 | 0.44 | 2 | 3 | CLINVAR_CTD_human_MGD_UNIPROT |
Cardiomyopathy, Dilated, 1EE | 0.36 | 1 | 3 | CLINVAR_CTD_human_UNIPROT |
Cardiomyopathy, Dilated | 0.248001298 | 4 | 1 | BeFree_CLINVAR_CTD_human_GAD_LHGDN |
Sick Sinus Syndrome | 0.240542884 | 2 | 0 | BeFree_CTD_human_ORPHANET |
Cardiomyopathy, Hypertrophic, Familial | 0.24 | 1 | 1 | CLINVAR_CTD_human |
SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) | 0.24 | 0 | 0 | CLINVAR_CTD_human |
Atrial Septal Defects | 0.125905708 | 3 | 0 | BeFree_CTD_human_GAD_LHGDN |
Hypertrophic Cardiomyopathy | 0.123267234 | 3 | 0 | BeFree_CTD_human_LHGDN |
Congenital Heart Defects | 0.122638474 | 1 | 1 | BeFree_CLINVAR_GAD |
Ostium secundum atrial septal defect | 0.12 | 0 | 0 | ORPHANET |
RESTING HEART RATE | 0.12 | 2 | 1 | GWASCAT |
Atrial Septal Defect 3 | 0.12 | 1 | 0 | UNIPROT |
Cardiomyopathies | 0.003181358 | 4 | 1 | BeFree_GAD |
Myopathy | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of prostate | 0.001085767 | 4 | 0 | BeFree |
Prostate carcinoma | 0.001085767 | 4 | 0 | BeFree |
Heart failure | 0.000542884 | 2 | 0 | BeFree |
Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Adenovirus Infections | 0.000271442 | 1 | 0 | BeFree |
Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
Sensorineural Hearing Loss (disorder) | 0.000271442 | 1 | 0 | BeFree |
Lymphoid leukemia | 0.000271442 | 1 | 0 | BeFree |
Myocarditis | 0.000271442 | 1 | 0 | BeFree |
Hypoplastic Left Heart Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hearing Loss, Mixed Conductive-Sensorineural | 0.000271442 | 1 | 0 | BeFree |
Familial sick sinus syndrome | 0.000271442 | 1 | 0 | BeFree |
NONAKA MYOPATHY | 0.000271442 | 1 | 0 | BeFree |
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