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Human KLF1 wild-type allele is located within 19p13.13-p13.12 and is approximately 3 kb in length. This allele, which encodes Krueppel-like factor 1 protein, plays a role in the regulation of both transcription and erythrocyte development. Heterozygous loss-of-function mutations in the gene are associated with the blood group-Lutheran inhibitor phenotype.
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