Gene Symbol | LMBRD1 |
Entrez Gene ID | 55788 |
Full Name | LMBR1 domain containing 1 |
Synonyms | C6orf209,LMBD1,MAHCF,NESI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) |