RecName: Full=Ferroxidase HEPHL1; AltName: Full=Hephaestin-like protei - Protein

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Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. [J Med Genet. 1992]
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
Shapira SK, Neish AS, Pober BR. J Med Genet. 1992 Jul; 29(7):509-10.
The Placental Ferroxidase Zyklopen Is Not Essential for Iron Transport to the Fetus in Mice. [J Nutr. 2021]
The Placental Ferroxidase Zyklopen Is Not Essential for Iron Transport to the Fetus in Mice.
Helman SL, Wilkins SJ, McKeating DR, Perkins AV, Whibley PE, Cuffe JSM, Simmons DG, Fuqua BK, Vulpe CD, Wallace DF, et al. J Nutr. 2021 Sep 4; 151(9):2541-2550.
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. [PLoS Genet. 2019]
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, et al. PLoS Genet. 2019 May; 15(5):e1008143. Epub 2019 May 24.

RefSeq protein
See the reference protein sequence for ferroxidase HEPHL1 precursor (NP_001092142.1).

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Q6MZM0 [Domain Mapping of Disease Mut...]
Q6MZM0
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Ferroxidase HEPHL1; AltName: Full=Hephaestin-like protein 1; Flags...
RecName: Full=Ferroxidase HEPHL1; AltName: Full=Hephaestin-like protein 1; Flags: Precursor
gi|205785679|sp|Q6MZM0.2|HPHL1_HUMA

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