Disease-gene associations mined from literature

Literature associating UNC13D and selective immunoglobulin deficiency disease

UNC13D [ENSP00000207549]

Unc-13 homolog D (C. elegans); 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; UNC13 homologs

Synonyms:  UNC13D,  UNC13Dp,  hUNC13D,  K7EIH3,  K7ELN2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM