Reactivities: | Human |
Presku: | AAP59815 |
Size: | 100ug |
Weight: | 13kDa |
Gene: | 131118 |
Format: | Lyophilized powder |
Target: | The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Several transcript variants, some protein-coding and some not, have been found for this gene. |
Alternative names: | TIM14; TIMM14 |