LMBRD1 Antibody, Biotin conjugated

1. endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1 PMID: 27456980
2. Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4) PMID: 28572511
3. Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. PMID: 25535791
4. LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR. PMID: 24078630
5. These data indicate that by forming complexes with lamin A/C and nucleoporins, NESI facilitates the CRM1-independent nuclear export of large hepatitis delta antigen. PMID: 23175358
6. novel mutations in LMBRD1 in three patients PMID: 21303734
7. LMBRD1: the gene for the cblF defect of vitamin B metabolism. PMID: 20446115
8. a LMBRD1 mutation causes the cblF defect of vitamin B(12) metabolism in a Turkish patient [case report] PMID: 20127417
9. LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin. PMID: 19136951

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HGNC: 23038

OMIM: 277380

KEGG: hsa:55788

STRING: 9606.ENSP00000359609

UniGene: Hs.271643