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galactokinase (GALK1, GALK)
Function:
- major enzyme for galactose metabolism
- galactose metabolism, 1st step
ATP + D-galactose ADP + alpha-D-galactose 1-phosphate
Structure: belongs to the GHMP kinase family. GalK subfamily
Pathology:
- defects in GALK1 are the cause of galactosemia 2
Laboratory:
- galactokinase in erythrocytes
- galactokinase in leukocytes
Interactions
molecular events
Specific
N-acetylgalactosamine kinase (galNAc kinase, galactokinase 2, GALK2, GK2)
General
kinase or ATP-phosphotransferase
Properties
SIZE: entity length = 392 aa
MW = 42 kD
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 134-144
Database Correlations
OMIM correlations
MORBIDMAP 604313
UniProt P51570
PFAM correlations
ENZYME 2.7.1.6
References
- UniProt :accession P51570
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GALK1