Gene Symbol | KLF1 |
Entrez Gene ID | 10661 |
Full Name | Kruppel like factor 1 |
Synonyms | EKLF |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Blood group--Lutheran inhibitor, 111150 (3); [Hereditary persistence of fetal hemoglobin], 613566 (3); Dyserythropoietic anemia, congenital, type IV, 613673 (3) |