UNC13D

20129470450ENSG00000092929ENSMUSG00000057948Q70J99B2RUP2NM_199242NM_001009573NP_954712NP_001009573Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene. Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene. Munc13-4 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. Munc13-4 is an essential protein in the intracellular trafficking and exocytosis of lytic granules. It is targeted to CD63 positive secretory lysosomes. The C-terminal C2 domain of the protein is involved in this process. Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3. This article incorporates text from the United States National Library of Medicine, which is in the public domain.