1i3k: Difference between revisions
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{{STRUCTURE_1i3k| PDB=1i3k | SCENE= }} | {{STRUCTURE_1i3k| PDB=1i3k | SCENE= }} | ||
===MOLECULAR BASIS FOR SEVERE EPIMERASE-DEFICIENCY GALACTOSEMIA: X-RAY STRUCTURE OF THE HUMAN V94M-SUBSTITUTED UDP-GALACTOSE 4-EPIMERASE=== | |||
{{ABSTRACT_PUBMED_11279193}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GALE_HUMAN GALE_HUMAN]] Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG) [MIM:[http://omim.org/entry/230350 230350]]; also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development.<ref>PMID:16302980</ref><ref>PMID:9538513</ref><ref>PMID:11279193</ref><ref>PMID:9326324</ref><ref>PMID:9973283</ref><ref>PMID:11903335</ref><ref>PMID:16301867</ref><ref>PMID:15639193</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GALE_HUMAN GALE_HUMAN]] Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:011279193</ref><references group="xtra"/> | <ref group="xtra">PMID:011279193</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: UDP-glucose 4-epimerase]] | [[Category: UDP-glucose 4-epimerase]] | ||