TLDR Only a few hair-specific keratins are linked to inherited hair disorders.
The document discussed the complexity of the human hair keratin family, which was initially thought to be simpler than the epithelial keratin family but was later found to include 54 functional keratin genes. These genes are divided into type I and type II, with specific clusters on chromosomes 17 and 12. The study highlighted the expression patterns of these keratins in the hair follicle and inner root sheath (IRS). It also noted that mutations in type II keratins are linked to hair and nail pathologies, with a particular focus on the imbalance of keratins in the IRS and its implications for hair follicle malformations. The research emphasized the need for further investigation into the newly discovered type I IRS keratins and their role in diseases like monilethrix.
70 citations,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
86 citations,
May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
98 citations,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
235 citations,
July 1999 in “Journal of biological chemistry/The Journal of biological chemistry” Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
139 citations,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
356 citations,
December 1986 in “The journal of cell biology/The Journal of cell biology” Hair and nail cells share similar proteins, indicating a common differentiation pathway.
138 citations,
March 2007 in “Experimental cell research” Only a few hair-specific keratins are linked to inherited hair disorders.