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GlossaryLIPH gene

provides instructions for an enzyme crucial for hair growth

The LIPH gene provides instructions for making an enzyme called lipase H, which is involved in the production of a molecule that helps hair grow. Mutations in the LIPH gene can lead to conditions like autosomal recessive woolly hair and hypotrichosis, where individuals have abnormally curly hair or sparse hair growth.

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research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis

May 2023 in “Pharmaceuticals”

Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations, November 2006 in “Science”

A genetic mutation in the LIPH gene causes hair loss and growth defects.

Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

9 citations, February 2018 in “The Journal of Dermatology”

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

research Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis

1 citations, September 2020 in “Journal of dermatology”

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

May 2024 in “Frontiers in medicine”

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

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