Unc-13 homolog D (Munc13-4, UNC13D, C. elegans homolog of D)

Function

• vesicle maturation during exocytosis
• regulation of cytolytic granules secretion

Compartment

• cytoplasm, peripheral membrane
• colocalizes with cytotoxic granules at plasma membrane

Alternative splicing

named isoforms=2

Expression

• expressed spleen, thymus, leukocyte > lung, placenta > brain, heart, skeletal muscle, kidney

Pathology

• defects in UNC13D are a cause of familial hemophagocytic lymphohistiocytosis type 3 (HPLH3)

More general terms

• membrane protein

Additional terms

• UNC13D gene mutation

Database

• OMIM: https://mirror.omim.org/entry/608897
• OMIM: https://mirror.omim.org/entry/608898
• UniProt: http://www.uniprot.org/uniprot/Q70J99.html