CUBN
LOCUS ID8029
GENE_SYMBOLCUBN
GENE NAMEcubilin
SYNONYMNSIFCR,MGA1,gp280
CHROMOSOME10
HOMOLOGENE ID37434
microRNAsNANA
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
Nephropathy1. genetic association exists between a cubilin and a rare megalin variant with diabetes-associated ESRD in populations with recent African ancestry27197912