Celiac disease (CD) is a life-long gluten-sensitive immune-mediated disorder that primarily affects the small intestine of genetically susceptible individuals worldwide. Type 2 transglutaminase (TG2) has two crucial roles ...

ABC (ATP-binding cassette) transporters are the largest superfamily of membrane proteins present in all organisms and they are particularity involved in transport of nutrients and drugs... [edited by Author]

ABCC6 is a member of ATP-binding cassette family of transporters, a class of membrane transporters sharing a common structural organization. Mutations in ABCC6 are associated with Pseudoxantoma elasticum (PXE) and with a ...

Classic galactosemia is an inborn error of metabolism associated with mutations that impair the activity and the stability of the dimeric enzyme galactose-1-phosphate uridylyltransferase (GALT), which catalyzes the third ...