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This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
[中文简述(自动翻译):]  这个基因编码琥珀酸 - 泛醌氧化还原酶的主要催化亚基,线粒体呼吸链的复合物。复杂的是由四核编码亚基在线粒体内膜进行本地化。该基因突变与被称为Leigh综合征线粒体呼吸链缺乏症的一种形式有关。假基因已被确定在3q29染色体。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2014年6月提供]
SDHA基因(以及对应的蛋白质)的细胞分布位置:
SDHA基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Mitochondrial Complex II Deficiency | 0.480271442 | 2 | 8 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Leigh Disease | 0.240814326 | 5 | 0 | BeFree_CTD_human_UNIPROT |
CARDIOMYOPATHY, DILATED, 1GG | 0.24 | 1 | 1 | CLINVAR_UNIPROT |
PARAGANGLIOMAS 5 | 0.24 | 1 | 4 | CLINVAR_UNIPROT |
Gastrointestinal Stromal Tumors | 0.123528744 | 13 | 0 | BeFree_ORPHANET |
Cardiomyopathy, Dilated | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Carney Triad | 0.120271442 | 1 | 2 | BeFree_CLINVAR |
Neoplastic Syndromes, Hereditary | 0.12 | 0 | 4 | CLINVAR |
Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human |
Paraganglioma | 0.00434307 | 16 | 0 | BeFree |
Pheochromocytoma | 0.002442977 | 9 | 0 | BeFree |
Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD |
Renal Cell Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Leukodystrophy | 0.000542884 | 2 | 3 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Hereditary Paraganglioma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Phyllodes Tumor | 0.000271442 | 1 | 0 | BeFree |
Von Hippel-Lindau Syndrome | 0.000271442 | 1 | 0 | BeFree |
Muscle hypotonia | 0.000271442 | 1 | 3 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Pituitary Adenoma | 0.000271442 | 1 | 0 | BeFree |
Prolactinoma | 0.000271442 | 1 | 0 | BeFree |
Schizophrenia | 0.000271442 | 1 | 0 | BeFree |
Encephalopathies | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Succinate-coenzyme Q reductase deficiency | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Mitochondrial Diseases | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathies | 0.000271442 | 1 | 3 | BeFree |
Well Differentiated Pancreatic Endocrine Tumor | 0.000271442 | 1 | 0 | BeFree |
Malignant Paraganglionic Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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