UNC13D/Munc 13-4 Products

Description

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.

Bioinformatics

Entrez	201294 Human 70450 Mouse 192177 Rat
Uniprot	NP_954712.1 Human
Product By Gene ID	201294
Alternate Names	FHL3 HLH3 HPLH3 Munc13-4 Munc13-4protein unc-13 homolog D unc-13 homolog D (C. elegans) UNC13D