rs113912772
This variant is located in the GATA5 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout GATA5
The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
View all GATA5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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