Reactivities: | Human |
Presku: | AAP68751 |
Size: | 100ug |
Weight: | 15kDa |
Gene: | 55967 |
Format: | Lyophilized powder |
Target: | This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. |
Alternative names: | B17.2; DAP13 |