cytochrome c oxidase assembly protein COX18, mitochondrial isoform 2 [ - Protein

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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. [Eur J Hum Genet. 2023]
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, Dilena R, Cecchetti V, Picciolli I, Furlan F, et al. Eur J Hum Genet. 2023 Dec; 31(12):1414-1420. Epub 2023 Jul 19.
CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. [Mol Syst Biol. 2022]
CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system.
Lim SH, Snider J, Birimberg-Schwartz L, Ip W, Serralha JC, Botelho HM, Lopes-Pacheco M, Pinto MC, Moutaoufik MT, Zilocchi M, et al. Mol Syst Biol. 2022 Feb; 18(2):e10629.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

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NP_776188 [Domain Mapping of Disease Mut...]
NP_776188
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
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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Gdcr1 glycerolphosphate dehydrogenase regulator 1 [Mus musculus]
Gdcr1 glycerolphosphate dehydrogenase regulator 1 [Mus musculus]
Gene ID:107925

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