rRNA methyltransferase 2, mitochondrial [Homo sapiens]

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MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity. [J Med Genet. 2023]
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
Shafique A, Arif B, Chu ML, Moran E, Hussain T, Zamora FM, Wohler E, Sobreira N, Klein C, Lohmann K, et al. J Med Genet. 2023 Apr; 60(4):352-358. Epub 2022 Aug 24.
FTSJ2, a heat shock-inducible mitochondrial protein, suppresses cell invasion and migration. [PLoS One. 2014]
FTSJ2, a heat shock-inducible mitochondrial protein, suppresses cell invasion and migration.
Lai CW, Chen HL, Lin KY, Liu FC, Chong KY, Cheng WT, Chen CM. PLoS One. 2014; 9(3):e90818. Epub 2014 Mar 4.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. [Hum Mol Genet. 2017]
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, et al. Hum Mol Genet. 2017 Nov 1; 26(21):4257-4266.

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NP_037525 [Domain Mapping of Disease Mut...]
NP_037525
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
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Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

TBC1 domain family member 1 isoform X7 [Homo sapiens]
TBC1 domain family member 1 isoform X7 [Homo sapiens]
gi|2217349701|ref|XP_047305844.1|

Protein
TBC1 domain family member 1 isoform X20 [Homo sapiens]
TBC1 domain family member 1 isoform X20 [Homo sapiens]
gi|2217349721|ref|XP_047305851.1|

Protein
PREDICTED: Homo sapiens TBC1 domain family member 1 (TBC1D1), transcript variant...
PREDICTED: Homo sapiens TBC1 domain family member 1 (TBC1D1), transcript variant X2, mRNA
gi|2462595883|ref|XM_054349391.1|

Nucleotide
TBC1 domain family member 1 isoform X5 [Homo sapiens]
TBC1 domain family member 1 isoform X5 [Homo sapiens]
gi|767930254|ref|XP_011511965.1|

Protein
Homo sapiens N-acetyltransferase 1 (NAT1), transcript variant 10, mRNA
Homo sapiens N-acetyltransferase 1 (NAT1), transcript variant 10, mRNA
gi|1675086286|ref|NM_001291962.2|

Nucleotide

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