TCHH
| Trichohyalin | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | TCHH ; THH; THL; TRHY | ||||||||||||
| External IDs | OMIM: 190370 HomoloGene: 87970 GeneCards: TCHH Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 7062 | 99681 | |||||||||||
| Ensembl | ENSG00000159450 | ENSMUSG00000052415 | |||||||||||
| UniProt | Q07283 | n/a | |||||||||||
| RefSeq (mRNA) | NM_007113 | NM_001163098 | |||||||||||
| RefSeq (protein) | NP_009044 | NP_001156570 | |||||||||||
| Location (UCSC) |
Chr 1: 152.11 – 152.12 Mb |
Chr 3: 93.44 – 93.45 Mb | |||||||||||
| PubMed search | |||||||||||||
Trichohyalin is a protein in humans that is encoded by the TCHH gene. [1]
Trichohyalin confers mechanical strength to the hair follicle inner root sheath and to other toughened epithelial tissues, such as the hard palate and filiform ridges of the tongue, by forming multiple complex crosslinks with itself and with other structural proteins (Steinert et al., 2003 [PubMed 12853460]).[supplied by OMIM, Dec 2009]. The enzyme converts arginine to citrulline at the inner root sheath and medulla of hair follicles.[2]
References
- ↑ "Entrez Gene: Trichohyalin". Retrieved 2012-04-26.
- ↑ Rogers, G. E.; Rothnagel, J. A. (1983). "A sensitive assay for the enzyme activity in hair follicles and epidermis that catalyses the peptidyl-arginine-citrulline post-translational modification". Current Problems in Dermatology 11: 171–184. PMID 6653155.
Further reading
- Eriksson, N.; MacPherson, J. M.; Tung, J. Y.; Hon, L. S.; Naughton, B.; Saxonov, S.; Avey, L.; Wojcicki, A.; Pe'er, I.; Mountain, J. (2010). Gibson, Greg, ed. "Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits". PLoS Genetics 6 (6): e1000993. doi:10.1371/journal.pgen.1000993. PMC 2891811. PMID 20585627.
- Yamamoto, S.; Hirai, K.; Hasegawa-Oka, Y.; Hirai, Y. (2009). "Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle". Experimental Dermatology 18 (2): 152–159. doi:10.1111/j.1600-0625.2008.00777.x. PMID 18643848.
- Lee, S. C.; Wang, M.; McBride, O. W.; O'Keefe, E. J.; Kim, I. G.; Steinert, P. M. (1993). "Human trichohyalin gene is clustered with the genes for other epidermal structural proteins and calcium-binding proteins at chromosomal locus 1q21". The Journal of Investigative Dermatology 100 (1): 65–68. doi:10.1111/1523-1747.ep12354504. PMID 8423399.
- Steinert, P. M.; Parry, D. A.; Marekov, L. N. (2003). "Trichohyalin Mechanically Strengthens the Hair Follicle: MULTIPLE CROSS-BRIDGING ROLES IN THE INNER ROOT SHEATH". Journal of Biological Chemistry 278 (42): 41409–41419. doi:10.1074/jbc.M302037200. PMID 12853460.
- O'Keefe, E. J.; Hamilton, E. H.; Lee, S. C.; Steinert, P. (1993). "Trichohyalin: A structural protein of hair, tongue, nail, and epidermis". The Journal of Investigative Dermatology 101 (1 Suppl): 65S–71S. doi:10.1111/1523-1747.ep12362866. PMID 7686953.
- Fietz, M. J.; Rogers, G. E.; Eyre, H. J.; Baker, E.; Callen, D. F.; Sutherland, G. R. (1992). "Mapping of the trichohyalin gene: Co-localization with the profilaggrin, involucrin, and loricrin genes". The Journal of Investigative Dermatology 99 (5): 542–544. doi:10.1111/1523-1747.ep12667301. PMID 1431214.
- Medland, S. E.; Nyholt, D. R.; Painter, J. N.; McEvoy, B. P.; McRae, A. F.; Zhu, G.; Gordon, S. D.; Ferreira, M. A. R.; Wright, M. J.; Henders, A. K.; Campbell, M. J.; Duffy, D. L.; Hansell, N. K.; MacGregor, S.; Slutske, W. S.; Heath, A. C.; Montgomery, G. W.; Martin, N. G. (2009). "Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans". The American Journal of Human Genetics 85 (5): 750–755. doi:10.1016/j.ajhg.2009.10.009. PMC 2775823. PMID 19896111.
- Leung, M. C.; Sutton, C. W.; Fenton, D. A.; Tobin, D. J. (2010). "Trichohyalin is a Potential Major Autoantigen in Human Alopecia Areata". Journal of Proteome Research 9 (10): 5153–5163. doi:10.1021/pr100422u. PMID 20722389.
- Lee, S. C.; Kim, I. G.; Marekov, L. N.; O'Keefe, E. J.; Parry, D. A.; Steinert, P. M. (1993). "The structure of human trichohyalin. Potential multiple roles as a functional EF-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein". The Journal of Biological Chemistry 268 (16): 12164–12176. PMID 7685034.
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