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Overview
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Gene Accession: NP006554
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Background
This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype.KLF1 (Kruppel Like Factor 1) is a Protein Coding gene. Diseases associated with KLF1 include Dyserythropoietic Anemia, Congenital, Type Iv and Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome. Among its related pathways are Hematopoietic Stem Cell Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is KLF4.
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