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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for UNC13D (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID201294
Official gene symbolUNC13D
Full nameunc-13 homolog D (C. elegans)
Aliases,FHL3,HLH3,HPLH3,Munc13-4,
Gene summaryThis 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]
LocationChromosome: 17   Locus: 17q25.1
Gene position73840798 - 73823306  Map Viewer
Gene orientationminus
Gene size17493 bp
Gene sequence
OMIM ID608897