JAGN1 gene

jagunal homolog 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Severe congenital neutropenia 6, autosomal recessive

From UniProt:

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. [MIM:616022]

Cytogenetic Location: 3p25.2, which is the short (p) arm of chromosome 3 at position 25.2

Molecular Location: base pairs 9,890,587 to 9,894,349 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.2, which is the short (p) arm of chromosome 3 at position 25.2
  • GL009
  • SCN6