Ectodysplasinový A receptor

Ectodysplasinový A receptor (EDAR) je protein u lidí kódovaný EDAR genem. EDAR je receptor povrchu buňky pro ectodysplasin,  který hraje důležitou roli v rozvoji ektodermální tkáně, jako je kůže.[1][2][3] Strukturálně je příbuzný  TNF receptoru.[4]

Funkce

EDAR a další geny poskytují instrukce pro výrobu bílkovin, které pracují společně, během embryonálního vývoje. Tyto proteiny jsou součástí signální dráhy , která je důležitá pro interakci mezi dvěma vrstvami buněk, ektodermem a mesodermem. V časných stádiích embrya tyto vrstvy buněk tvoří základ pro mnoho tělesných orgánů a tkání. Ektoderm-mezoderm interakce jsou zásadní pro správnou tvorbu několika struktur, které vznikají z ektodermu, včetně kůže, vlasů, nehtů, zubů a potních žláz.

Klinický význam

Mutace v tomto genu byly spojeny s ektodermální dysplazií, tj.  nižší hustotou potních žláz.

Odvozená alela EDAR

Odvozená G-alela bodové mutace (SNP) s pleiotropními účinky v EDAR, 370A nebo rs3827760, nalézena u většiny moderních východní asiatů a domorodých Američané , ale není běžné u africké nebo evropské populace, tj. je odpovědná za řadu rozdílů mezi těmito populacemi, včetně silnějších vlasů, vícečetných potní žláz, menších prsou, a sinodontního chrupu (tzv. lopatní řezáky) charakteristické pro Asiaty.[5]

Reference

V tomto článku byl použit překlad textu z článku Ectodysplasin A receptor na anglické Wikipedii.

  1. ↑ Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nature Genetics. Aug 1999, s. 366–9. DOI 10.1038/11937. PMID 10431241. 
  2. ↑ Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. American Journal of Medical Genetics. Nov 1997, s. 462–7. DOI 10.1002/(SICI)1096-8628(19971112)72:4<462::AID-AJMG17>3.0.CO;2-P. PMID 9375732. 
  3. ↑ Dostupné online. 
  4. ↑ Šablona:OMIM
  5. ↑ Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L, Yang Y, Li S, Tang K, Chen H, Powell A, Itan Y, Fuller D, Lohmueller J, Mao J, Schachar A, Paymer M, Hostetter E, Byrne E, Burnett M, McMahon AP, Thomas MG, Lieberman DE, Jin L, Tabin CJ, Morgan BA, Sabeti PC. Modeling recent human evolution in mice by expression of a selected EDAR variant. Cell. Feb 2013, s. 691–702. DOI 10.1016/j.cell.2013.01.016. PMID 23415220. 

Externí odkazy

Transmembránové receptory
Receptor spřažený s G proteinem
Třída A
Třída B
Třída C
Třída D
Třída E
Třída F
Ionotropní receptor
Katalytický receptor
Ostatní

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