Gene Symbol | GFI1B |
Entrez Gene ID | 8328 |
Full Name | growth factor independent 1B transcriptional repressor |
Synonyms | BDPLT17,ZNF163B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Aug 2014]. |
Disorder MIM: | |
Disorder Html: | Bleeding disorder, platelet-type, 17, 187900 (3) |