The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ELISA: Use at an assay dependent dilution. Peptide ELISA antibody detection limit dilution: 1/128000
IHC-P: Use at a concentration of 2.5 µg/ml.
WB: Use at a concentration of 0.1 µg/ml. Predicted molecular weight: 123 kDa.
Preliminary experiments gave an approx 75kDa band in Human Spleen and Human Tonsil lysates after 0.1µg/ml antibody staining. Please note that currently we cannot find an explanation in the literature for the band we observe given the calculated size of 123kDa according to NP_954712.1 Other isoforms have been described in other species. The band was successfully blocked by incubation with the immunising peptide
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells.
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.
Involvement in disease
Defects in UNC13D are the cause of hemophagocytic lymphohistiocytosis familial type 3 (FHL3) [MIM:608898]; also known as HPLH3. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen, and other organs is also found.