Gene Locus : human-cb069
Mode of mutation : Natural mutant
Disease : Combined oxidative phosphorylation deficiency-53 (COXPD53)
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Wong et al. (2021) identified homozygosity for a 5-bp deletion (c.588delTTTAA, NM_153689.5) in the C2ORF69 gene, resulting in a frameshift and premature termination (Asn196LysfsTer4)