Presku: | AAP48144 |
Size: | 100 ug |
Weight: | 27kDa |
Gene: | 7167 |
Format: | Lyophilized powder |
Target: | TPI1 belongs to the triosephosphate isomerase family. Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) . TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. |
Alternative names: | MGC88108; TPI |