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GALK1 Protein, Antibody, ELISA Kit, cDNA Clone

GALK1 Related Areas

GALK1 Related Pathways

GALK1 Related Product

    GALK1 Summary & Protein Information

    GALK1 Background

    Gene 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.
    General information above from NCBI
    Catalytic activity: ATP + D-galactose = ADP + alpha-D-galactose 1- phosphate.
    Subunit structure: Homodimer (Probable).
    Involvement in disease: Galactosemia II (GALCT2) [MIM:230200]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the GHMP kinase family. GalK subfamily.
    General information above from UniProt

    Galactokinase, also known as Galactose kinase, GALK and GALK1, is a protein which belongs to the GHMP kinase family and GalK subfamily. Galactokinase / GALK1 is a major enzyme for galactose metabolism. Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by elevation of blood galactose concentration and diminished galactose-1-phosphate, leading to the production of galactitol. Defects in GALK1 are the cause of galactosemia II ( GALCT2 ) which II 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.

    GALK1 Alternative Name

    GALK1,GALK,GK1, [human]
    AA409894,GALK,Glk,Glk1,Galk1,RP23-42F6.2,Gk, [mouse]

    GALK1 Related Studies

  • Hunter,M. et al., 2001, Hum Mutat. 17 (1):77-8.
  • Park,H.D. et al., 2007, Mol Genet Metab. 91 (3):234-8.
  • Park,H.D. et al., 2009, BMC Med Genet. 10 :29.
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