Overview

  • Product name
    Human Munc 13-4 peptide

Description

  • Nature
    Synthetic
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      C-KQASQHALRPAP
    • Amino acids
      1079 to 1090

Associated products

Specifications

Our Abpromise guarantee covers the use of ab23273 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking - Blocking peptide for Anti-Munc 13-4 antibody (ab15723)

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

General Info

  • Alternative names
    • FHL 3
    • FHL3
    • FLJ00067
    • HLH 3
    • HLH3
    • HPLH 3
    • HPLH3
    • Jinx
    • Munc13 4
    • Munc13-4
    • Protein unc 13 homolog D
    • Protein unc-13 homolog D
    • UN13D_HUMAN
    • Unc 13 homolog D
    • UNC 13D
    • Unc-13 homolog D (C. elegans)
    • Unc13 homolog D
    • Unc13 homolog D (C elegans)
    • UNC13, C. elegans, homolog of, D
    • UNC13D
    • Unc13h4
    see all
  • Function
    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.
  • 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.
  • 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.
  • 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.
  • Domain
    The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome.
  • Cellular localization
    Cytoplasm. Membrane. Late endosome. Recycling endosome. Lysosome. Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles.
  • Information by UniProt

References

ab23273 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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