Entrez gene ID | | 201294 |
Official gene symbol | | UNC13D |
Full name | | unc-13 homolog D (C. elegans) |
Aliases | | ,FHL3,HLH3,HPLH3,Munc13-4, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17q25.1 |
Gene position | | 73840798 - 73823306 Map Viewer |
Gene orientation | | minus |
Gene size | | 17493 bp |
Gene sequence |
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OMIM ID | | 608897 |