C176529Level 5
JAGN1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human JAGN1 wild-type allele is located in the vicinity of 3p25.3 and is approximately 4 kb in length. This allele, which encodes protein jagunal homolog 1 protein, plays a role in neutrophil-mediated immunity and vesicle transport. Mutation of the gene is associated with autosomal recessive severe congenital neutropenia 6 (SCN6).
**Synonyms:** - FLJ14602 - GL009 - Jagunal Homolog 1 (Drosophila) Gene - Jagunal Homolog 1 wt Allele - Jagunal, Drosophila, Homolog of, 1 Gene - SCN6
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