Npl 深入了解基因-突变-疾病-模型全维度数据，尽在Rare Disease Data Center（RDDC）综合数据库

MGI:1921341 Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. Homozygosity for the p.R63C mutation or KO leads to impaired mitochondrial respiration, leading to reduced skeletal muscle strength, endurance and regeneration capacity.