| CUBN |
| LOCUS ID | 8029 | ||||||||||
| GENE_SYMBOL | CUBN | ||||||||||
| GENE NAME | cubilin | ||||||||||
| SYNONYMNS | IFCR,MGA1,gp280 | ||||||||||
| CHROMOSOME | 10 | ||||||||||
| HOMOLOGENE ID | 37434 |
| microRNAs | NA | NA |
| GENE 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] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. genetic association exists between a cubilin and a rare megalin variant with diabetes-associated ESRD in populations with recent African ancestry | 27197912 |