Gene Symbol | UNC13D |
Entrez Gene ID | 201294 |
Full Name | unc-13 homolog D |
Synonyms | FHL3,HLH3,HPLH3,Munc13-4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) |