| Description : |
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. |
| Conjugation : |
HIS |
| Source : |
E. coli |
| Tissue specificity : |
Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. |
| Form : |
Lyophilised:Reconstitution with 146 μl aqua dest. |
| Storage buffer : |
Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5 |
| Storage : |
Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles. |
| Sequences of amino acids : |
GCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRI QQQAETTSEELGAVTVKASYRASEQKLRVELLSASSLL PLDSNGSSDPFVQLTLEPRHEFPELAARETQKHKKDLH PLFDETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEG EAFLPLREVPGLSGSEEPGEVPQTRLPLTYPAPNGDPI LQLLEGRKGDREAQVFVRLRRHRAKQASQHALRPAP |
| Sequence Similarities : |
Belongs to the unc-13 family.Contains 2 C2 domains.Contains 1 MHD1 (MUNC13 homology domain 1) domain.Contains 1 MHD2 (MUNC13 homology domain 2) domain. |
