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GALK1 galactokinase 1

Also known as: GK1; GALK; HEL-S-19

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. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Deficiency of galactokinase
MedGen: C0268155OMIM: 230200GeneReviews: Not available
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Genomic context

Location:
17q24
Sequence:
Chromosome: 17; NC_000017.11 (75757937..75765199, complement)
Total number of exons:
8

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