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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.

Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case

research Case of Autosomal Recessive Woolly Hair/Hypotrichosis with Compound Heterozygous Mutations in the LIPH Gene at c.742C > A and c.614A > G: The First Japanese Case

February 2023 in “Journal of dermatology”

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research A Novel Splice Site Mutation in LIPH Identified in a Japanese Patient with Autosomal Recessive Woolly Hair

August 2016 in “Journal of Investigative Dermatology”

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

research Botanical Extracts in Combination Improve Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Mutations

March 2022 in “Journal of cosmetic dermatology”

Botanical extracts can help treat hair loss in people with certain genetic conditions.

research Biology and Genetics of Hair

89 citations, September 2010 in “Annual Review of Genomics and Human Genetics”

The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.

research Molecular Genetics of Alopecias

9 citations, January 2015 in “Current problems in dermatology”

Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.

research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations

7 citations, March 2015 in “British Journal of Dermatology”

Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.

research Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair

7 citations, February 2011 in “Journal of dermatology”

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures During Rabbit Breeding and Improvement

March 2024 in “Genes”

Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.

research Isolated Autosomal Recessive Woolly Hair/Hypotrichosis: Genetics, Pathogenesis, and Therapies

9 citations, May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

research Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants

5 citations, July 2020 in “JAMA Dermatology”

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

15 citations, February 2014 in “PloS one”

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations, November 2011 in “The Journal of Dermatology”

Some hair loss disorders are caused by genetic mutations affecting hair growth.

research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient

2 citations, December 2013 in “Journal of dermatology”

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

research Molecular Basis of Hereditary Hair Diseases

January 2023 in “The Keio Journal of Medicine”

Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.

research Clinicopathological Insights into the Phenotypic Variation of Autosomal Recessive Hypotrichosis/Wooly Hair by c.736T>A LIPH Mutation

September 2016 in “Journal of dermatological science”

The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.

research Inherited Disorders of the Hair

2 citations, January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.

Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

12 citations, July 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

research Lysophospholipid Mediators in Health and Disease

49 citations, November 2021 in “Annual review of pathology”

Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.

research Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood

12 citations, March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

research Woolly Antics Between the Sheaths

1 citations, February 2009 in “Journal of Investigative Dermatology”

Lipase H is important for hair follicle function and shaping hair fibers.