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The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
[中文简述(自动翻译):]  钙蛋白酶的,钙激活中性蛋白酶,是nonlysosomal,细胞内的半胱氨酸蛋白酶。哺乳动物钙蛋白酶包括普遍存在的,胃特异性的,和肌肉特异性蛋白。无处不在的酶包括与一个常见的??小,调节亚基相关的不同的大,催化亚基异的。该基因编码的大亚基普遍存在的酶,蛋白酶1成绩单几个变种编码两个不同的亚型已经发现了这种基因。 [由RefSeq的,2010年11月提供]
CAPN1基因(以及对应的蛋白质)的细胞分布位置:
CAPN1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
melanoma | 0.12 | 1 | 0 | CTD_human |
Optic Neuritis | 0.12 | 1 | 0 | CTD_human |
Alzheimer's Disease | 0.0054487 | 2 | 0 | LHGDN |
Prostatic Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Muscular Dystrophy, Duchenne | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Anoxia | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.00272435 | 1 | 0 | LHGDN |
Sore to touch | 0.001085767 | 4 | 0 | BeFree |
Ataxia | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cardiac Arrest | 0.000271442 | 1 | 0 | BeFree |
Ataxia, Spinocerebellar | 0.000271442 | 1 | 0 | BeFree |
Harlequin Fetus | 0.000271442 | 1 | 1 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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