SURF1
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Surfeit locus protein 1 (SURF1) is a protein that in humans is encoded by the SURF1 gene.[5][6] The protein encoded by SURF1 is a component of the mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex (MITRAC complex), which is involved in the regulation of cytochrome c oxidase assembly.[7][8] Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase (complex IV) deficiency, and Charcot-Marie-Tooth disease 4K (CMT4K).[9][10]
Quick Facts Identifiers, Aliases ...
SURF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | SURF1, CMT4K, surfeit 1, cytochrome c oxidase assembly factor, SURF1 cytochrome c oxidase assembly factor, MC4DN1, SHY1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 185620 MGI: 98443 HomoloGene: 2387 GeneCards: SURF1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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