Human Galactokinase

  • Contact Vendor

Format Purity: 0.95
Format: 10 mM Tris. pH 8.0. 0.002% NaN3. 3mM NaCl. 2.5mM Imidazole.
Species Human
Target Tag/Conjugate Unconjugated
Target/Molecule Synonym Galactokinase 1, EC 2.7.1.6, Galactose kinase, GALK, GK1
Accession Number NCBI Accession Number: NP_000145.1
Swiss Protein Accession Number: P51570
Applications MS, SDS
Original Item Name Galactokinase
Category Protein
Source/Expression System E. coli
Molecule Name Galactokinase
References [1] Hilton.J.F.. Christensen.K.E.. Watkins.D.. Raby.B.A.. Renaud.Y.. de la Luna.S.. Estivill.X.. MacKenzie.R.E.. Hudson.T.J. and. et al.
The molecular basis of glutamate formiminotransferase deficiency
[2] Solans.A.. Estivill.X. and de la Luna.S.. et al.
Cloning and characterization of human FTCD on 21q22.3. a candidate gene for glutamate formiminotransferase deficiency
[3] Lapierre.P.. Hajoui.O.. Homberg.J.C. and Alvarez.F.. et al.
Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis
[4] Hennig.D.. Scales.S.J.. Moreau.A.. Murley.L.L.. De Mey.J. and Kreis.T.E.
A formiminotransferase cyclodeaminase isoform is localized to the Golgi complex and can mediate interaction of trans-Golgi network-derived vesicles with microtubules
[5] Solans A.. Estivill X.. de la Luna S.
Cloning and characterization of human FTCD on 21q22.3. a candidate gene for glutamate formiminotransferase deficiency.
[6] Lapierre P.. Hajoui O.. Homberg J.-C.. Alvarez F.
Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis.
[7] Hillman R.T.. Green R.E.. Brenner S.E.
An unappreciated role for RNA surveillance.
[8] Hilton J.F.. Christensen K.E.. Watkins D.. Raby B.A.. Renaud Y.. De La Luna S.. Estivill X.. MacKenzie R.E.. Hudson T.J.. Rosenblatt D.S.. et al.
The molecular basis of glutamate formiminotransferase deficiency.
EC Number EC 2.7.1.6
Unit 0.1 mg
Description Function: Major enzyme for galactose metabolism.Catalytic Activity: ATP + D-galactose = ADP + alpha-D-galactose 1-phosphate.Pathway: Galactose metabolism; first step.Disease: Defects in GALK1 are the cause of galactosemia II [MIM:230200]. 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.Similarity: Belongs to the GHMP kinase family. GalK subfamily.Summary: Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. Entry Name: GALK1_HUMAN Chromosome Location: 17q24 Sequence Position 1: 1 Sequence Position 2: 392 Length (aa): 392 MW: 42272 OMIM: 230200; phenotype. [ NCBI / EBI]604313; gene. [ NCBI / EBI] Applications: MS. SDS Applications Not Tested: ELISA, Western Blot Testing Protocols: SDS: Analysis of GALK1 Recombinant Protein. 4-20% SDS gradient gel. Coomassie blue staining.||10-288-22113F_SD Storage: -70°C. Avoid frequent freeze and thaw. Stability: 6-12 months at -70°C. Fusion: His-Tag at N-terminus.