KLF5 Chromosome 13

KLF transcription factor 5
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
"Zinc fingers C2H2-type|KLF transcription factors"
Locus Type
gene with protein product
Location
13q22.1
Ensembl
ENSG00000102554
Associated Conditions (1)
Dilated cardiomyopathy 1FF
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2044646731 Health Risk Pathogenic Dilated cardiomyopathy 1FF, Dilated cardiomyopathy 1FF
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