Condition: MYOPIA 6 (disorder)
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.