UNC13D, Official Symbol UNC13Dprovided by HGNC Official Full Name unc-13 homolog Dprovided by HGNC Primary source HGNC:HGNC:23147 See related Ensembl:ENSG00000092929 MIM:608897; AllianceGenome:HGNC:23147 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FHL3; HLH3; HPLH3; Munc13-4 Summary 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] Expression Broad expression in bone marrow (RPKM 20.9), lung (RPKM 16.7) and 21 other tissues See more Orthologs mouse all