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Brief Description
The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. (Source https://www.tandfonline.com/doi/full/10.1080/13816810.2020.1810284#abstract)
This is for informational purposes only. For medical advice or diagnosis, consult a professional.
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