Gene: GFI1

Alternate names for this Gene: GFI-1|GFI1A|SCN2|ZNF163

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p22.1

Description of this Gene: growth factor independent 1 transcriptional repressor

Type of Gene: protein-coding

rs6689470 in GFI1 gene and Multiple Sclerosis PMID 27386562 2016 Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.

rs28936382 in GFI1 gene and Neutropenia, Nonimmune Chronic Idiopathic, Adult PMID 12778173 2003 Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.

rs28936381 in GFI1 gene and Neutropenia, Severe Congenital, Autosomal Dominant 2 PMID 12778173 2003 Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.