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FLASH GENE
Symbol KLF1 contributors: mct/pgu - updated : 09-06-2017
HGNC name Kruppel-like factor 1 (erythroid)
HGNC id 6345
ASSOCIATED DISORDERS
corresponding disease(s) CDAN4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
inactivating mutations is the first demonstration of a blood group phenotype resulting from mutations in a transcription factor (form the molecular basis of the rare blood group In(Lu) phenotype)
constitutional     --low  
would relieve gamma-globin gene repression in adult erythroid progenitors
constitutional germinal mutation      
KLF1 mutations modulate the phenotype in a cohort of alpha-thalassemia carriers
constitutional germinal mutation      
KLF1 gene promoter mutation (KLF1:g.-148G&8201;>&8201;A) is associated with increased HbF level
Susceptibility
  • to increased fetal hemoglobin (HbF) levels
  • Variant & Polymorphism other KLF1 variations are associated with increased fetal hemoglobin (HbF) levels
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodhemoglobin 
    controlled knockdown of KLF1 in adult erythroid progenitors may provide a method to activate fetal hemoglobin expression in individuals with beta-thalassemia or sickle cell disease
    ANIMAL & CELL MODELS
  • adult Nan/+ mice exhibit lifelong hemolytic anemia with spherocytosis, whereas Nan/Nan embryos die in utero at 12.5 days gestation (