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Product Name LMBRD1 Chinese Name 核输出信号相互作用蛋白抗体 Alias HDAg-L-interacting protein NESI; LMBD1_HUMAN; LMBR1 domain-containing protein 1; lmbrd1; Nuclear export signal-interacting protein; Probable lysosomal cobalamin transporter. Research Area Tumour Cell biology immunology Signal transduction The new supersedes the old Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, Sheep, ) Applications IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 61kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human LMBRD1: 21-120/540 <Extracellular> Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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]
Function:
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).
Subcellular Location:
Lysosome membrane.
Tissue Specificity:
Isoform 3 is expressed in liver.
Post-translational modifications:
N-glycosylated.
DISEASE:
Defects in LMBRD1 are the cause of methylmalonic aciduria and homocystinuria type cblF (MMAFHC) [MIM:277380]; also known as homocystinuria-megaloblastic anemia complementation type F. MMAFHC is 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.
Similarity:
Belongs to the LIMR family. LMBRD1 subfamily.
SWISS:
Q9NUN5
Gene ID:
55788
Database links:Entrez Gene: 55788 Human
Entrez Gene: 68421 Mouse
Omim: 612625 Human
SwissProt: Q9NUN5 Human
SwissProt: Q8K0B2 Mouse
Unigene: 271643 Human
Unigene: 677072 Human
Unigene: 477783 Mouse
Unigene: 201860 Rat
Product Picture Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (LMBRD1) Polyclonal Antibody, Unconjugated (SL18309R) at 1:400 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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