{"symbol":"UNC13D","synonyms":["HLH3","MUNC13-4","FHL3","HPLH3"],"name":"unc-13 homolog D (C. elegans)","description":"This gene encodes a protein that 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. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":201294,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/201294","proteins":[{"symbol":"UN13D_HUMAN","href":"/api/1.0/protein/UN13D_HUMAN"}],"hgncRootFamilies":[{"name":"C2 domain containing","href":"/api/1.0/gene_family/C2+domain+containing"}]}