Gene Symbol | CUBN |
Entrez Gene ID | 8029 |
Full Name | cubilin |
Synonyms | IFCR,MGA1,gp280 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Megaloblastic anemia-1, Finnish type, 261100 (3) |