This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.
Pathway
Cobalamin (Cbl, vitamin B12) transport and metabolism; Defective AMN causes hereditary megaloblastic anemia 1; Defective BTD causes biotidinase deficiency; Defective CD320 causes methylmalonic aciduria; Defective CUBN causes hereditary megaloblastic anemia 1; Defective GIF causes intrinsic factor deficiency; Defective HLCS causes multiple carboxylase deficiency; Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF; Defective MMAA causes methylmalonic aciduria type cblA; De
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