Gene: JAGN1

Alternate names for this Gene: GL009|SCN6

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: jagunal homolog 1

Type of Gene: protein-coding

rs587777728 in JAGN1 gene and NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE PMID 25129144 2014 JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

rs587777727 in JAGN1 gene and Severe congenital neutropenia PMID 25129144 2014 JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.