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GlossaryDesmoglein 4

protein crucial for hair follicle formation and maintenance

Desmoglein 4 is a protein that plays a crucial role in the formation and maintenance of hair follicles. It is part of the desmosome complex, which helps cells stick together, ensuring the structural integrity of tissues. Mutations in the gene encoding Desmoglein 4 can lead to hair disorders such as localized autosomal recessive hypotrichosis, characterized by sparse and fragile hair.

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research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

25 citations, March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific gene mutation causes varying hair loss severity in a Pakistani family.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations, February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat

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