Trichohyalin

TCHH
Identifiers
AliasesTCHH, THH, THL, TRHY, trichohyalin, UHS3
External IDsGeneCards: TCHH
Gene location (Human)
Chr.Chromosome 1 (human)[1]
BandNo data availableStart152,106,317 bp[1]
End152,115,454 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

7062

n/a

Ensembl

ENSG00000159450

n/a

UniProt

Q07283

n/a

RefSeq (mRNA)

NM_007113

n/a

RefSeq (protein)

NP_009044

n/a

Location (UCSC)Chr 1: 152.11 – 152.12 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Trichohyalin is a protein in humans that is encoded by the TCHH gene.[3]

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. The enzyme converts arginine to citrulline at the inner root sheath and medulla of hair follicles.[4]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000159450 - Ensembl, May 2017
  2. "Human PubMed Reference:".
  3. "Entrez Gene: Trichohyalin". Retrieved 2012-04-26.
  4. Rogers GE, Rothnagel JA (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: 171–84. PMID 6653155.

Further reading

  • Eriksson N, Macpherson JM, Tung JY, Hon LS, Naughton B, Saxonov S, Avey L, Wojcicki A, Pe'er I, Mountain J (June 2010). Gibson G, ed. "Web-based, participant-driven studies yield novel genetic associations for common traits". PLoS Genetics. 6 (6): e1000993. PMC 2891811Freely accessible. PMID 20585627. doi:10.1371/journal.pgen.1000993. 
  • Yamamoto S, Hirai K, Hasegawa-Oka Y, Hirai Y (February 2009). "Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle". Experimental Dermatology. 18 (2): 152–9. PMID 18643848. doi:10.1111/j.1600-0625.2008.00777.x. 
  • Lee SC, Wang M, McBride OW, O'Keefe EJ, Kim IG, Steinert PM (January 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): 65–8. PMID 8423399. doi:10.1111/1523-1747.ep12354504. 
  • Steinert PM, Parry DA, Marekov LN (October 2003). "Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth". The Journal of Biological Chemistry. 278 (42): 41409–19. PMID 12853460. doi:10.1074/jbc.M302037200. 
  • O'Keefe EJ, Hamilton EH, Lee SC, Steinert P (July 1993). "Trichohyalin: a structural protein of hair, tongue, nail, and epidermis". The Journal of Investigative Dermatology. 101 (1 Suppl): 65S–71S. PMID 7686953. doi:10.1111/1523-1747.ep12362866. 
  • Fietz MJ, Rogers GE, Eyre HJ, Baker E, Callen DF, Sutherland GR (November 1992). "Mapping of the trichohyalin gene: co-localization with the profilaggrin, involucrin, and loricrin genes". The Journal of Investigative Dermatology. 99 (5): 542–4. PMID 1431214. doi:10.1111/1523-1747.ep12667301. 
  • Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG (November 2009). "Common variants in the trichohyalin gene are associated with straight hair in Europeans". American Journal of Human Genetics. 85 (5): 750–5. PMC 2775823Freely accessible. PMID 19896111. doi:10.1016/j.ajhg.2009.10.009. 
  • Leung MC, Sutton CW, Fenton DA, Tobin DJ (October 2010). "Trichohyalin is a potential major autoantigen in human alopecia areata". Journal of Proteome Research. 9 (10): 5153–63. PMID 20722389. doi:10.1021/pr100422u. 
  • Lee SC, Kim IG, Marekov LN, O'Keefe EJ, Parry DA, Steinert PM (June 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): 12164–76. PMID 7685034. 
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