UNC13B Antibody, Biotin conjugated

1. A rare missense variation (V1525M) in UNC13B was identified by WES in the multiplex family; this variation was present in five of six affected individuals, but not in eight unaffected individuals or one individual of unknown disease status. Resequencing UNC13B coding regions identified five rare missense variations (T103M, M813T, P1349T, I1362T, and V1525M). PMID: 26990377
2. The 1-5-8-26 CaM binding motif discovered in Munc13-1 cannot be induced in the classical CaM target skMLCK, indicating unique features of the Munc13 CaM binding motif. PMID: 24854537
3. Munc13-1 regulates insulin exocytosis PMID: 12871971
4. MUNC13-4 mutations play a role in the development of familial haemophagocytic lymphohistiocytosis subtype 3 through a defective cytotoxic pathway PMID: 15466010
5. Data suggest that diacylglycerol-activated hmunc13 serves as an effector of Rab34, mediating lysosome-Golgi trafficking. PMID: 16138900
6. Data identified a polymorphism in the UNC13B gene associated with nephropathy. UNC13B mediates apopotosis in glomerular cells in the presence of hyperglycemia, an event occurring early in the development of nephropathy. PMID: 18633107
7. In the bound state, the hydrophobic anchor residue of the calmodulin (CaM)-binding motif in Munc13 contacts two distinct methionine residues in the carboxyl-terminal domain of CaM. PMID: 19492809
8. mechanistic basis for high glucose-induced protein secretion is through interaction of munc13 and rab34, indicating a potentially critical role for this newly described pathway in the pathogenesis of DN. PMID: 19641095

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HGNC: 12566

OMIM: 605836

KEGG: hsa:10497

STRING: 9606.ENSP00000367756

UniGene: Hs.493791