Gene: NCAPH2

Alternate names for this Gene: CAPH2

Gene Summary: This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.33

Description of this Gene: non-SMC condensin II complex subunit H2

Type of Gene: protein-coding

Gene: SCO2

Alternate names for this Gene: CEMCOX1|ECGF1|Gliostatin|MC4DN2|MYP6|PD-ECGF|SCO1L|TP|TYMP|TdRPase

Gene Summary: Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.33

Description of this Gene: synthesis of cytochrome C oxidase 2

Type of Gene: protein-coding

rs74315511 in NCAPH2;SCO2 gene and Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency PMID 17189203 2007 The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

PMID 11673586 2001 Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

PMID 10545952 1999 Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

PMID 25959673 2015 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

PMID 19353847 2009 A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

PMID 19336478 2009 Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

PMID 14994243 2004 Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

PMID 10749987 2000 Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

rs140523 in NCAPH2;SCO2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1352878283 in NCAPH2;SCO2 gene and Leigh Disease PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

rs370130010 in NCAPH2;SCO2 gene and MYOPIA 6 (disorder) PMID 25525168 2014 Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

PMID 23643385 2013 Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

PMID 25959673 2015 Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.

rs131808 in NCAPH2;SCO2 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs140523 in NCAPH2;SCO2 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs131808 in NCAPH2;SCO2 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.