Title : JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

Pub. Date : 2015 May

PMID : 25851723






2 Functional Relationships(s)
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Protein Name
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1 Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. Nitrogen jagunal homolog 1 Homo sapiens
2 Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. Nitrogen jagunal homolog 1 Homo sapiens