Human Galactose-1-phosphate Uridylyltransferase, GALT ELISA Kit, 96T Culture Plate Inserts Mutations in this gene have

Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS)

is a 513 amino acid protein that exists as three alternatively spliced isoforms

Involved in the cellular activity of small molecular weight nitrosothiols

promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9

such as RAPGEF5 (Rap guanine nucleotide exchange factor 5)

Human Galactose-1-phosphate Uridylyltransferase, GALT ELISA Kit, 96T Culture Plate Inserts Mutations in this gene have