UNC13D

Protein unc-13 homolog D, also known as munc13-4, is a is_associated_with::protein that in humans is encoded by the UNC13D is_associated_with::gene.

Function
Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal is_associated_with::phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during is_associated_with::exocytosis and is involved in regulation of cytolytic granules secretion.

Munc13-4 is an is essential protein in the intracellular trafficking and exocytosis of lytic granules. It is targeted to is_associated_with::CD63 positive secretory lysosomes. The C-terminal C2 domain of the protein is involved in this process.

Clinical significance
Mutations in the UNC13D gene are associated with is_associated_with::hemophagocytic lymphohistiocytosis type 3.