Figures
Loss of HEPHL1 leads to hair abnormalities.
Multicopper ferroxidases play a central role in iron homeostasis by catalyzing the oxidation of ferrous iron to ferric so it can bind to the circulating carrier transferrin. Analysis of biallelic variants in the HEPHL1 gene of a patient with hair abnormalities revealed that both variants adversely affect the ferroxidase activity. Furthermore, complete ablation of Hephl1 in mouse leads to a curly whisker (vibrissae) hair phenotype, supporting an important role for the ferroxidase activity of HEPHL1 in hair growth and hair disorders. Image of wild type (left) and littermate (right) Hephl1 knockout mouse with an insert showing hair abnormalities in patient with biallelic HEPHL1 variants. See Sharma et al.
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Image Credit: Sharma et al.
Citation: (2019) PLoS Genetics Issue Image | Vol. 15(5) May 2019. PLoS Genet 15(5): ev15.i05. https://doi.org/10.1371/image.pgen.v15.i05
Published: May 31, 2019
Copyright: © 2019 Sharma et al.. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Multicopper ferroxidases play a central role in iron homeostasis by catalyzing the oxidation of ferrous iron to ferric so it can bind to the circulating carrier transferrin. Analysis of biallelic variants in the HEPHL1 gene of a patient with hair abnormalities revealed that both variants adversely affect the ferroxidase activity. Furthermore, complete ablation of Hephl1 in mouse leads to a curly whisker (vibrissae) hair phenotype, supporting an important role for the ferroxidase activity of HEPHL1 in hair growth and hair disorders. Image of wild type (left) and littermate (right) Hephl1 knockout mouse with an insert showing hair abnormalities in patient with biallelic HEPHL1 variants. See Sharma et al.
Download May's cover page.
Image Credit: Sharma et al.