Ferroxidase HEPHL1

Definition:

Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe(2+) to Fe(3+) without releasing radical oxygen species. May be involved in the regulation of intracellular iron content.

References:

[1]. Prashant Sharma, et al. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS Genet. 2019 May 24;15(5):e1008143. [Content Brief]

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