JAGN1
Function
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.
Involvement in disease
Neutropenia, severe congenital 6, autosomal recessive
SCN6
A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the jagunal family.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
Protein jagunal homolog 1, JAGN1