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. Cubilin shows a restricted mode of expression according to protein profiling and transcriptomics analyses,[8] and is essentially only present in the kidneys and small intestine.[9] Mutations in CUBN may play a role inautosomal recessive megaloblastic anemia.[7] A complex ofamnionless and cubilin forms thecubam receptor.
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Bork P, Beckmann G (1993). "The CUB domain. A widespread module in developmentally regulated proteins".J. Mol. Biol.231 (2):539–45.doi:10.1006/jmbi.1993.1305.PMID8510165.
Aminoff M, Carter JE, Chadwick RB, et al. (1999). "Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1".Nat. Genet.21 (3):309–13.doi:10.1038/6831.PMID10080186.S2CID21836060.
Kozyraki R, Fyfe J, Kristiansen M, et al. (1999). "The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein".Nat. Med.5 (6):656–61.doi:10.1038/9504.PMID10371504.S2CID9392624.
Xu D, Kozyraki R, Newman TC, Fyfe JC (1999). "Genetic evidence of an accessory activity required specifically for cubilin brush-border expression and intrinsic factor-cobalamin absorption".Blood.94 (10):3604–6.doi:10.1182/blood.V94.10.3604.422k22_3604_3606.PMID10552972.
Kristiansen M, Aminoff M, Jacobsen C, et al. (2000). "Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin".Blood.96 (2):405–9.doi:10.1182/blood.V96.2.405.PMID10887099.
Yammani RR, Seetharam S, Seetharam B (2001). "Cubilin and megalin expression and their interaction in the rat intestine: effect of thyroidectomy".Am. J. Physiol. Endocrinol. Metab.281 (5): E900–7.doi:10.1152/ajpendo.2001.281.5.E900.PMID11595644.S2CID1438500.
Wahlstedt-Fröberg V, Pettersson T, Aminoff M, et al. (2004). "Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption".Pediatr. Nephrol.18 (5):417–21.doi:10.1007/s00467-003-1128-y.PMID12687456.S2CID10669019.
