MTU1 Rabbit Polyclonal Antibody, 50ul Enzyme Activity Assays Mutations in this gene have

Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS)

and synthesis of hyaluronic acid and sulfated glycosaminoglycan

Regulates ENaC surface expression (By similarity)

highly conserved DNA-binding motif

a calcium-dependent adhesion molecule

MTU1 Rabbit Polyclonal Antibody, 50ul Enzyme Activity Assays Mutations in this gene haveThis nuclear gene encodes a mitochondrial tRNA modifying enzyme. The encoded protein catalyzes the 2 thiolation of uridine on the wobble positions of tRNA(Lys) tRNA(Glu) and tRNA(Gln) resulting in the formation of 5 taurinomethyl 2 thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations.