LMBRD1 Antibody – Rabbit Polyclonal

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]

LMBRD1: Probable lysosomal cobalamin transporter. Required to export cobalamin from lysosomes allowing its conversion to cofactors. Isoform 3 may play a role in the assembly of hepatitis delta virus (HDV). Defects in LMBRD1 are the cause of methylmalonic aciduria and homocystinuria type cblF (MMAHCF). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. Belongs to the LIMR family. LMBRD1 subfamily. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6q13

Cellular Component: membrane; lysosomal membrane; plasma membrane; integral to membrane; clathrin-coated endocytic vesicle

Molecular Function: cobalamin binding; insulin receptor binding

Biological Process: negative regulation of glucose import; vitamin metabolic process; negative regulation of protein kinase B signaling cascade; viral reproduction; cobalamin metabolic process; negative regulation of insulin receptor signaling pathway; water-soluble vitamin metabolic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cblf Type