LMBRD1, Official Symbol LMBRD1provided by HGNC Official Full Name LMBR1 domain containing 1provided by HGNC Primary source HGNC:HGNC:23038 See related Ensembl:ENSG00000168216 MIM:612625; AllianceGenome:HGNC:23038 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NESI; LMBD1; MAHCF; C6orf209 Summary 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] Expression Ubiquitous expression in adrenal (RPKM 45.7), kidney (RPKM 42.7) and 25 other tissues See more Orthologs mouse all