Goat anti-Human Munc13-4 Polyclonal Antibody | anti-UNC13D antibody

Munc13-4 (FHL3, FHL-3, FLJ00067, HLH3, HPLH3, Unc-13 Homolog D (C. elegans), UNC13D)

Cat. Num. AAA627126

• Reactivity: Human
• Applications: ELISA, Western Blot
• Purity: Affinity Purified; Purified by peptide affinity chromatography.
• Synonyms: Munc13-4; Polyclonal Antibody; Munc13-4 (FHL3; FHL-3; FLJ00067; HLH3; HPLH3; Unc-13 Homolog D (C. elegans); UNC13D); Anti -Munc13-4 (FHL3; anti-UNC13D antibody

• Host: Goat
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human Munc13-4.
• Purity/Purification: Affinity Purified; Purified by peptide affinity chromatography.
• Form/Format: Supplied as a liquid in Tris saline, pH 7.2, 0.5% BSA, 0.02% sodium azide.

• Applicable Applications for anti-UNC13D antibody: ELISA (EL/EIA), Western Blot (WB)
• Application Notes: Suitable for use in ELISA and Western Blot.; Dilution: Peptide ELISA Titer: 1:16,000; Western Blot: 1-3ug/ml ~105kD band observed in Human T-lymphocyte and HeLa lysates (calculated MW of 123kD according to NP_954712.1).
• Immunogen: Synthetic peptide corresponding to C-KQASQHALRPAP, from the C Terminus of human Munc13-4 (NP_954712.1).
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Chemiluminescence

(MBS627126( 2µg/ml) staining of Human T-lymphocyte lysate (35µg protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)

Related Product Information for anti-UNC13D antibody

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.

Product Categories/Family for anti-UNC13D antibody

Antibodies; Abs to Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 40252318
• UniProt Accession #: Q70J99; Q9H7K5; B4DWG9
• Molecular Weight: 123,282 Da
• NCBI Official Full Name: mammalian unc13-4
• UniProt Protein Name: Protein unc-13 homolog D
• Protein Family: Protein
• UniProt Gene Name: UNC13D
• UniProt Entry Name: UN13D_HUMAN

NCBI 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. [provided by RefSeq, Jul 2008]

Uniprot Description

UNC13D: 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. Defects in UNC13D are the cause of familial hemophagocytic lymphohistiocytosis type 3 (FHL3); 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. Belongs to the unc-13 family. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 17q25.1

Cellular Component: recycling endosome; membrane; lysosome; late endosome

Molecular Function: protein binding; Rab GTPase binding

Biological Process: regulation of mast cell degranulation; natural killer cell degranulation; germinal center formation; granuloma formation; defense response to virus; phagocytosis; positive regulation of exocytosis

Disease: Hemophagocytic Lymphohistiocytosis, Familial, 3