2024年12月25日 · SCO2 (Synthesis Of Cytochrome C Oxidase 2) is a Protein Coding gene. Diseases associated with SCO2 include Myopia 6 and Mitochondrial Complex Iv Deficiency, Nuclear Type 2. Among its related pathways are Gene expression (Transcription) and Respiratory electron transport.

The SCO2 gene encodes for a protein essential for the assembly and function of Mammalian cytochrome c oxidase (COX) (Complex IV) of the mitochondrial respiratory chain.

Spinal muscular atrophy has been associated with mtDNA depletion or with mutations in the cytochrome-c oxidase assembly gene (SCO2; OMIM 604377). structural and metal binding features of human Cu (I)Sco2 are similar to the Sco1 homolog, although the dynamic properties and the conformational disorder are quite different when apo forms and the ...

2000年3月22日 · Mutations in SCO2, a cytochrome c oxidase (COX) assembly gene located on chromosome 22, have recently been reported in patients with fatal infantile cardio­encephalomyopathy and severe COX deficiency in heart and skeletal muscle. The Sco2 protein is thought to function as a copper chaperone.

2021年10月27日 · The Scox gene is the Drosophila homolog of human SCO2 that encodes a protein required for the assembly of cytochrome c oxidase on the mitochondrial inner membrane.

SCO2 is a nuclear gene, inheritance of SCO2 deficiency is autosomal recessive, and all patients have a common G1541A (E140K) mutation on 1 allele. 8 Homozygous G1541A mutations have been found in patients with a milder phenotype, consisting of delayed development of hypertrophic obstructive cardiomyopathy and severe neuromuscular disease. 15 ...

Gene target information for SCO2 - synthesis of cytochrome C oxidase 2 (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

HGNC Approved Gene Symbol: SCO2. Cytogenetic location: 22q13.33 Genomic coordinates (GRCh38) : 22:50,523,568-50,526,442 (from NCBI) Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane.

细胞色素 c 氧化酶 (COX) 催化电子从细胞色素 c 转移到分子氧，这有助于维持穿过线粒体内膜的质子梯度，这是有氧 ATP 产生所必需的。 人 COX 是一种多聚体蛋白复合物，需要多个组装因子；该基因编码 COX 装配因子之一。 编码的蛋白质是一种金属伴侣，参与细胞色素 c 氧化酶亚基 II 的生物发生。 该基因的突变与致命的婴儿脑心肌病和近视 6 有关。 [RefSeq 提供，2014 年 10 月]

This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.