基因名:
Unc13d
产品别名:
2610108D09Rik; Jinx; Munc13-4; mFLJ00067; Unc13d; unc-13 homolog D; unc-13 homolog D; protein unc-13 homolog D; likely ortholog of H. sapiens unc-13 homolog D (UNC13D); UNC13D蛋白;
背景信息:
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]