Varaico: Literature-Extracted Genetic Variants

Gene:CYP4F22
Variant:p.R372W
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CYP4F22

NM_173483.4:p.R372W

Associated Papers

Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations.

Nohara T et al.

Journal of Dermatological Science, 2021

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hotz A et al.

Human Mutation, 2018

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Bastaki F et al.

International Journal of Dermatology, 2017

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.

Ohno Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.

Kelly EJ et al.

Molecular Interventions, 2011

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Lefèvre C et al.

Human Molecular Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."