Reactivities: | Human |
Presku: | AAP68112 |
Size: | 100ug |
Weight: | 18kDa |
Gene: | 91574 |
Format: | Lyophilized powder |
Target: | This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. |
Alternative names: | COXPD7 |