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Overview
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Gene Accession: NP004179
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Background
This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants.GFI1B (Growth Factor Independent 1B Transcriptional Repressor) is a Protein Coding gene. Diseases associated with GFI1B include Bleeding Disorder, Platelet-Type, 17 and Gray Platelet Syndrome. Among its related pathways are NF-kappaB Signaling. GO annotations related to this gene include RNA polymerase II transcription factor binding. An important paralog of this gene is GFI1.
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