cytochrome c oxidase assembly protein COX16 homolog, mitochondrial iso - Protein

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A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. [Hum Mutat. 2021]
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, et al. Hum Mutat. 2021 Feb; 42(2):135-141. Epub 2020 Nov 30.
COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae. [J Biol Chem. 2003]
COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae.
Carlson CG, Barrientos A, Tzagoloff A, Glerum DM. J Biol Chem. 2003 Feb 7; 278(6):3770-5. Epub 2002 Nov 22.
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. [Arch Neurol. 2004]
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S. Arch Neurol. 2004 Dec; 61(12):1935-7.

RefSeq protein isoforms
See the other reference sequence protein isoform for the COX16 gene (NP_057552.1).

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Protein