Galactokinase, aa1, 1-392, Recombinant, Human (Galactose kinase, GALK1)

GALK1, also often designated galactokinase, is important in the first step of the galactose metabolism pathway. (ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate) Defects in GALK1 are the cause of galactosemia II. It is an autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses. Source: Recombinant human GALK1 protein, fused to His-tag at N-terminus, expressed in E.coli. AA Sequence: MGSSHHHHHH SSGLVPRGSH MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM TVLVGSPRKD, GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS, GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL, GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG, SRMTGGGFGG CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL, Enzyme Activity: Not determined. This product is recommended for use in applications that do not require a catalytically active form of the protein. Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.