ATP1A3

Sodyum/potasyum taşıyan ATPaz alt birimi alfa-3, insanlarda ATP1A3 geniyle kodlanmış enzimdir.[1][2] Beyindeki sodyum ve potasyum seviyelerinin düzenlenmesiyle ilgilidir.[3]

İşlev

Bu gen tarafından kodlanan protein P-tipi katyon taşıyıcı ATPaz'lar ailesine ve Na+/K+-ATPaz'lar alt ailesine aittir. Na+/K+-ATPaz, plazma membran boyunca Na ve K iyonlarının elektromanyetik meyillerini kurma ve yönetmede sorumlu, bütüncül membran proteindir. Bu meyiller, ozmoregülasyon, çeşitli organik ve inorganik moleküllerin sodyum bağlı taşınması, sinir ve kas sistemlerinin elektriksel uyarılabilirliği gibi işlemlerde zorunludur. Enzim iki alt birimden oluşur. Bir büyük katalitik alt birim (alfa) ve daha küçük olan glikoprotein alt birim (beta) Na+/K+-ATPaz'ın katalitik alt birimi birden çok genden oluşur. Bu gen bir alfa 3 alt birimini kodlar.[2]

Klinik durumlar

ATP1A3'teki mutasyonlar genellikle hızlı başlangıçlı distoni (ikincil parkinson, RDP ya da DYT12)'de görülür. Bu tanıya sahip kişilerde genetik test önerilir.

Bu genin mutasyonu farelerde epilepsi ile ilgilidir. Farelerde bu genin tahrif edilmesi epilepsiyi önlemektedir.[4],

Çocukluk çağı alternan hemiplejinin genetik nedeni olması muhtemeldir.[5]

Kaynakça
  1. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain. 130 (Pt 3). ss. 828-35. doi:10.1093/brain/awl340. PMID 17282997.
  2. "Entrez Gene: ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide". 6 Mart 2010 tarihinde kaynağından arşivlendi.
  3. "Arşivlenmiş kopya". 21 Şubat 2014 tarihinde kaynağından arşivlendi. Erişim tarihi: 12 Şubat 2014.
  4. Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC (Ağustos 2009). "Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS". Proc. Natl. Acad. Sci. U.S.A. 106 (33). ss. 14085-90. doi:10.1073/pnas.0904817106. PMC 2729024 $2. PMID 19666602.
  5. Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S; ve diğerleri. (Temmuz 2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nat Genet. 44 (9). ss. 1030-4. doi:10.1038/ng.2358. PMC 3442240 $2. PMID 22842232.

İleri okuma (İngilizce)
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Dış bağlantılar (İngilizce)
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