BC001166
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
45,358 Da
NCBI Official Full Name
Homo sapiens galactokinase 1, mRNA
NCBI Official Synonym Full Names
galactokinase 1
NCBI Protein Information
galactokinase
UniProt Protein Name
Galactokinase
UniProt Synonym Protein Names
Galactose kinase
UniProt Synonym Gene Names
UniProt Entry Name
GALK1_HUMAN
NCBI Summary for GALK1
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. [provided by RefSeq, Jul 2008]
UniProt Comments for GALK1
GALK1: Major enzyme for galactose metabolism. Defects in GALK1 are the cause of galactosemia II (GALCT2). Galactosemia 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. Belongs to the GHMP kinase family. GalK subfamily.
Protein type: Carbohydrate Metabolism - galactose; Kinase, other; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 2.7.1.6
Chromosomal Location of Human Ortholog: 17q24
Cellular Component: cytoplasm; cytosol; membrane
Molecular Function: ATP binding; galactokinase activity; galactose binding
Biological Process: galactose catabolic process; galactose metabolic process
Disease: Galactokinase Deficiency
Research Articles on GALK1
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Pathways associated with GALK1 cdna clone
Diseases associated with GALK1 cdna clone
Organs/Tissues associated with GALK1 cdna clone
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