Aliases for LMBRD1 Gene
External Ids for LMBRD1 Gene
Previous HGNC Symbols for LMBRD1 Gene
Previous GeneCards Identifiers for LMBRD1 Gene
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.[provided by RefSeq, Oct 2009]
GeneCards Summary for LMBRD1 Gene
LMBRD1 (LMBR1 Domain Containing 1) is a Protein Coding gene. Diseases associated with LMBRD1 include Methylmalonic Aciduria And Homocystinuria, Cblf Type and Hepatitis. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include insulin receptor binding and cobalamin binding.
UniProtKB/Swiss-Prot Summary for LMBRD1 Gene
Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791).
[Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).