Gene Symbol | GFI1 |
Entrez Gene ID | 2672 |
Full Name | growth factor independent 1 transcriptional repressor |
Synonyms | GFI-1,GFI1A,SCN2,ZNF163 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3); ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) |