1wuu: Difference between revisions
From Proteopedia
Jump to navigationJump to search
m Protected "1wuu" [edit=sysop:move=sysop] |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_1wuu| PDB=1wuu | SCENE= }} | {{STRUCTURE_1wuu| PDB=1wuu | SCENE= }} | ||
===crystal structure of human galactokinase complexed with MgAMPPNP and galactose=== | |||
{{ABSTRACT_PUBMED_15590630}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN]] Defects in GALK1 are the cause of galactosemia II (GALCT2) [MIM:[http://omim.org/entry/230200 230200]]. 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.<ref>PMID:10521295</ref><ref>PMID:10790206</ref><ref>PMID:11231902</ref><ref>PMID:11139256</ref><ref>PMID:12694189</ref><ref>PMID:15024738</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN]] Major enzyme for galactose metabolism. | |||
==About this Structure== | ==About this Structure== | ||
| Line 11: | Line 13: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015590630</ref><references group="xtra"/> | <ref group="xtra">PMID:015590630</ref><references group="xtra"/><references/> | ||
[[Category: Galactokinase]] | [[Category: Galactokinase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
