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This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的钙联接蛋白家族分子伴侣的成员。所编码的蛋白质是钙结合,内质网(ER)相关,与新合成的N-连接的糖蛋白瞬时相互作用,促进蛋白质折叠和装配蛋白。它也可以通过对ER降解内保持不正确折叠的蛋白质亚基在蛋白质折叠的质量控制中心作用。编码相同蛋白质可变剪接转录物变体已有描述。 [由RefSeq的,2008年7月提供]
CANX基因(以及对应的蛋白质)的细胞分布位置:
CANX基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
RESTING HEART RATE | 0.12 | 1 | 1 | GWASCAT |
melanoma | 0.003810118 | 4 | 0 | BeFree_LHGDN |
Nephrogenic Diabetes Insipidus | 0.002638474 | 1 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Charcot-Marie-Tooth Disease | 0.000814326 | 3 | 1 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Rubella | 0.000542884 | 2 | 0 | BeFree |
Albinism | 0.000271442 | 1 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Monoclonal Gammopathy of Undetermined Significance | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Retinitis Pigmentosa | 0.000271442 | 1 | 0 | BeFree |
Tuberous Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Vitiligo | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Lung Diseases, Interstitial | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Oculocutaneous albinism type 1 | 0.000271442 | 1 | 0 | BeFree |
Charcot-Marie-Tooth Disease, Type Ia (disorder) | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma, Childhood | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pseudoachondroplasia | 0.000271442 | 1 | 0 | BeFree |
Neuropathy | 0.000271442 | 1 | 0 | BeFree |
Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
MASA SYNDROME (disorder) | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
Distal Renal Tubular Acidosis | 0.000271442 | 1 | 0 | BeFree |
IMMUNE SUPPRESSION | 0.000271442 | 1 | 0 | BeFree |
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 0.000271442 | 1 | 0 | BeFree |
Photoreceptor degeneration | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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