KLF2 Chromosome 19

KLF transcription factor 2
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KLF transcription factors"
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000127528
Associated Conditions (1)
Inherited Immunodeficiency Diseases
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2512600587 Health Risk Likely pathogenic, low penetrance Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
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