Homo sapiens cytochrome c oxidase assembly factor COX18 (COX18), trans - Nucleotide

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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.

RefSeq alternative splicing
See 8 reference mRNA sequence splice variants for the COX18 gene.
RefSeq protein product
See the reference protein sequence for cytochrome c oxidase assembly protein COX18, mitochondrial isoform 1 (NP_001284661.1).

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Protein sequence from Nucleotide coding region
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Nucleotide