UNC13D
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.[5]
External IDsOMIM: 608897; MGI: 1917700; HomoloGene: 26714; GeneCards: UNC13D; OMA:UNC13D - orthologs
Function
Munc13-4 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.
Clinical significance
Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3.[5]
