RecName: Full=Protein SERAC1; AltName: Full=Serine active site-contain - Protein

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First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene. [Int J Dev Neurosci. 2022]
First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
Felhi R, Monastiri K, Ben Hamida H, Ammar M, Chioukh FZ, Tabarki B, Chouchen J, Fakhfakh F, Tlili A, Mkaouar-Rebai E. Int J Dev Neurosci. 2022 Dec; 82(8):736-747. Epub 2022 Aug 22.
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1. [Biochim Biophys Acta Mol Basis...]
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
Fellman V, Banerjee R, Lin KL, Pulli I, Cooper H, Tyynismaa H, Kallijärvi J. Biochim Biophys Acta Mol Basis Dis. 2022 Jan 1; 1868(1):166298. Epub 2021 Oct 28.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. [Ann Neurol. 2017]
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, et al. Ann Neurol. 2017 Dec; 82(6):1004-1015.

RefSeq genomic sequence
See the genomic reference sequence for the SERAC1 gene (NG_032889.1).
RefSeq protein isoforms
See 9 reference sequence protein isoforms for the SERAC1 gene.

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Q96JX3 [Domain Mapping of Disease Mut...]
Q96JX3
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

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Protein