GALK1 Human
Description
GALK1 Recombinant Human produced in E.Coli is a single, non-glycosylated polypeptide chain containing 412 amino acids (1-392 a.a.) and having a molecular mass of 44.4 kDa. The GALK1 is fused to a 20 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques.
Product Specs
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.
Product Science Overview
Galactokinase 1 is composed of two domains separated by a large cleft. The N-terminal domain consists of five strands of mixed beta-sheet and five alpha-helices, while the C-terminal domain is characterized by two layers of anti-parallel beta-sheets and six alpha-helices . The enzyme binds ATP in a hydrophobic pocket located at the interface of these two domains. This binding is essential for the enzyme’s function, as it facilitates the transfer of a phosphate group from ATP to galactose .
The primary function of Galactokinase 1 is to convert α-D-galactose to galactose-1-phosphate. This reaction is vital for the proper metabolism of galactose, allowing it to be further processed into glucose-1-phosphate, which can then enter glycolysis or be used in other metabolic pathways . Deficiency in Galactokinase 1 activity can lead to a condition known as galactokinase deficiency or galactosemia type II, characterized by elevated levels of galactose in the blood and urine .
Galactokinase deficiency is a rare hereditary disorder with a worldwide incidence of approximately 1 in 1,000,000 . The condition is primarily characterized by the development of cataracts in infancy or childhood due to the accumulation of galactitol, a byproduct of galactose metabolism . Other potential complications include neonatal hypoglycemia, bleeding diathesis, and encephalopathy . Early diagnosis through newborn screening and dietary management can significantly improve outcomes for affected individuals .
Recombinant Galactokinase 1 is produced using genetic engineering techniques, where the human GALK1 gene is inserted into a suitable expression system, such as bacteria or yeast. This allows for the production of large quantities of the enzyme for research and therapeutic purposes. Recombinant Galactokinase 1 is used in various studies to understand the enzyme’s structure, function, and role in disease, as well as to develop potential treatments for galactokinase deficiency .
