RecName: Full=Nonsense-mediated mRNA decay factor SMG8; AltName: Full= - Protein

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Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans. [Am J Hum Genet. 2020]
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Alzahrani F, Kuwahara H, Long Y, Al-Owain M, Tohary M, AlSayed M, Mahnashi M, Fathi L, Alnemer M, Al-Hamed MH, et al. Am J Hum Genet. 2020 Dec 3; 107(6):1178-1185. Epub 2020 Nov 25.
Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity. [Proc Natl Acad Sci U S A. 2013]
Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.
Usuki F, Yamashita A, Shiraishi T, Shiga A, Onodera O, Higuchi I, Ohno S. Proc Natl Acad Sci U S A. 2013 Sep 10; 110(37):15037-42. Epub 2013 Aug 27.
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. [Am J Med Genet A. 2022]
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Abdel-Salam GMH, Duan R, Abdel-Hamid MS, Sayed ISM, Jhangiani SN, Khan Z, Du H, Gibbs RA, Posey JE, Marafi D, et al. Am J Med Genet A. 2022 Feb; 188(2):648-657. Epub 2021 Nov 10.

RefSeq protein
See the reference protein sequence for nonsense-mediated mRNA decay factor SMG8 (NP_060619.4).

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Q8ND04 [Domain Mapping of Disease Mut...]
Q8ND04
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Reactome [Reactome]
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reagents [ExactAntigen/Labome]
reagents
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RecName: Full=Nonsense-mediated mRNA decay factor SMG8; AltName: Full=Amplified ...
RecName: Full=Nonsense-mediated mRNA decay factor SMG8; AltName: Full=Amplified in breast cancer gene 2 protein; AltName: Full=Protein smg-8 homolog
gi|74715258|sp|Q8ND04.1|SMG8_HUMAN

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