External Ids for JAGN1 Gene
Previous GeneCards Identifiers for JAGN1 Gene
The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]
GeneCards Summary for JAGN1 Gene
JAGN1 (Jagunal Homolog 1) is a Protein Coding gene. Diseases associated with JAGN1 include Neutropenia, Severe Congenital, 6, Autosomal Recessive and Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency.
UniProtKB/Swiss-Prot for JAGN1 Gene
Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils.