Human UNC13D Alternative Isoform Alexa Fluor® 488-conjugated Antibody

Applications

Please Note: Optimal dilutions should be determined by each laboratory for each application. General Protocols are available in the Technical Information section on our website.

Preparation and Storage

Background: UNC13D

UNC13D (also Munc13-4) is a 123 kDa cytoplasmic and peripheral membrane protein that is expressed at highest levels in hematopoietic tissues.  UNC13D appears to play a role in vesicle maturation during exocytosis and its expression is obligatory for exocytosis of cytolytic granules from NK and T cells. A point mutation in intron 1 of UNC13D causes familial hematophagocytic lymphohistiocytosis type3, a rare autosomal recessive immune deficiency. The mutation disrupts transcription factor binding and prevents expression of an alternative isoform that is required for lymphocyte cytotoxicity. The conventional and alternative isoforms are identical from amino acid 40-1090 but have distinct N-terminal segments.  It is unknown whether mice express the alternative isoform. 

Product Datasheets

Related Research Areas

• Alpha Granule Membrane Proteins
• Lysosomal Enzymes
• Platelet Cytoskeleton and Granule Release