Gene Symbol | JAGN1 |
Entrez Gene ID | 84522 |
Full Name | jagunal homolog 1 |
Synonyms | GL009,SCN6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Oct 2014]. |
Disorder MIM: | |
Disorder Html: | Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3) |