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Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  Cubilin(CUBN)充当内在因子维生素B12复合物的受体。受体的作用是由27 CUB结构域的存在支持。 Cubulin位于肠和肾上皮内。在CUBN突变可能在常染色体隐性遗传巨幼细胞贫血的作用。 [由RefSeq的,2008年7月提供]
CUBN基因(以及对应的蛋白质)的细胞分布位置:
CUBN基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Megaloblastic anemia due to inborn errors of metabolism | 0.482714419 | 10 | 30 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
melanoma | 0.12 | 1 | 0 | CTD_human |
Amphetamine-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Diabetic Nephropathy | 0.08 | 1 | 0 | RGD |
Coronary heart disease | 0.002909916 | 2 | 0 | BeFree_GAD |
Congenital neurologic anomalies | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Insulin-Dependent | 0.002638474 | 1 | 1 | BeFree_GAD |
Spina Bifida | 0.002638474 | 1 | 0 | BeFree_GAD |
Albuminuria | 0.002367032 | 1 | 1 | GAD |
Alzheimer's Disease | 0.002367032 | 1 | 1 | GAD |
Amyotrophic Lateral Sclerosis | 0.002367032 | 1 | 1 | GAD |
Inflammation | 0.002367032 | 1 | 0 | GAD |
Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD |
Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
Colorectal Cancer | 0.002367032 | 1 | 0 | GAD |
Anemia, Megaloblastic | 0.002171535 | 8 | 0 | BeFree |
Malabsorption Syndrome | 0.001628651 | 6 | 0 | BeFree |
Kidney Failure | 0.000542884 | 2 | 1 | BeFree |
Microalbuminuria | 0.000542884 | 2 | 1 | BeFree |
Chronic Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Kidney Failure, Chronic | 0.000271442 | 1 | 0 | BeFree |
Vitamin B 12 Deficiency | 0.000271442 | 1 | 0 | BeFree |
Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Secondary anemia NOS | 0.000271442 | 1 | 0 | BeFree |
Light chain myeloma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Cleft Lip with or without Cleft Palate | 0.000271442 | 1 | 0 | BeFree |
Intrinsic Factor Deficiency | 0.000271442 | 1 | 0 | BeFree |
Leprosy, Multibacillary | 0.000271442 | 1 | 0 | BeFree |
Chronic kidney disease stage 5 | 0.000271442 | 1 | 0 | BeFree |
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