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IKMB: Blood Group DB

Transcription factor EKLF

KLF1 encodes EKLF (erythroid Krüppel-like factor 1) which does not represent a blood group system. Variation in this gene is associated with In(Lu), a phenotype inherited in a dominant fashion. The In(Lu) phenotype is characterized by reduced expression of antigens of the Lutheran system and for P1, Inb, and AnWj antigens.

Description from GeneCards:
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.

Antigens
Reference Info
Gene: KLF1
Allele: KLF1*01
Seq: NG_013087.1 (genomic), NM_006563.3 (transcript), NP_006554.1 (protein)
Entrez GeneID: 10661
Uniprot ID: Q13351
Number of exons: 3 (hg19), 3 (hg38)
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