RecName: Full=Small ribosomal subunit protein mS22; AltName: Full=28S - Protein

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A patient with mitochondrial disorder due to a novel mutation in MRPS22. [Metab Brain Dis. 2017]
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK. Metab Brain Dis. 2017 Oct; 32(5):1389-1393. Epub 2017 Jul 27.
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. [Eur J Hum Genet. 2011]
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, et al. Eur J Hum Genet. 2011 Apr; 19(4):394-9. Epub 2010 Dec 29.
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. [J Med Genet. 2007]
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, Lombes A, Elpeleg O. J Med Genet. 2007 Dec; 44(12):784-6. Epub 2007 Sep 14.

RefSeq genomic sequence
See the genomic reference sequence for the MRPS22 gene (NG_012174.1).

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P82650 [Domain Mapping of Disease Mut...]
P82650
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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RecName: Full=Small ribosomal subunit protein mS22; AltName: Full=28S ribosomal ...
RecName: Full=Small ribosomal subunit protein mS22; AltName: Full=28S ribosomal protein S22, mitochondrial; Short=MRP-S22; Short=S22mt
gi|13633893|sp|P82650.1|RT22_HUMAN

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