UNC13D

Also known as FHL3, HLH3, HPLH3, Munc13-4, unc-13 homolog D

gene umano

Gene data

UNC13D

Name: unc-13 homolog D
Type: protein-coding
Aliases: HLH3, HPLH3, Munc13-4

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].

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