Recombinant human GALK1 protein

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. Recombinant human GALK1 protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.

Product Specifications

Product Name Alternative

Galactokinase, GALK, GK1, Galactokinase

Expression System

E.coli

Antigen Species

Human

Tag

His-Tag

Applications

SDS-PAGE

Concentration

0.5 mg/mL (determined by Bradford assay)

Purity

> 95% by SDS-PAGE

Molecular Weight

44.4 (412aa) confirmed by MALDI-TOF

Additionnal Information

GALK1, Galactokinase, GALK, GK1, Galactokinase, ATGP0641-10 µg, ATGP0641-20 µg, ATGP0641-50 µg, ATGP0641-100 µg, ATGP0641-250 µg, ATGP0641-500 µg, ATGP0641-1 mg, ATGP0641-10, ATGP0641-20, ATGP0641-50, ATGP0641-100, ATGP0641-250, ATGP0641-500, ATGP0641-1

References & Citations

Ai Y., et al. (1995) Biochem Biophys Res Commun. 212 (2) :687-91.; ; Hunter M., et al. (2001) Hum Mutat. 17 (1) :77-8.;

Storage Conditions

Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.

Formulation

Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 20% glycerol 0.1M NaCl, 1mM DTT

Scientific Category

Enzymes & Proteases

NCBI Accession Number

NP_000145.1

Uniprot Accession Number

P51570

Species

Human

AA Sequence

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