1wuu

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[[Image:1wuu.png|left|200px]]
 
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{{STRUCTURE_1wuu| PDB=1wuu | SCENE= }}
{{STRUCTURE_1wuu| PDB=1wuu | SCENE= }}
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===crystal structure of human galactokinase complexed with MgAMPPNP and galactose===
===crystal structure of human galactokinase complexed with MgAMPPNP and galactose===
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{{ABSTRACT_PUBMED_15590630}}
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{{ABSTRACT_PUBMED_15590630}}
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==Disease==
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[[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>
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==Function==
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[[http://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN]] Major enzyme for galactose metabolism.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:015590630</ref><references group="xtra"/>
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<ref group="xtra">PMID:015590630</ref><references group="xtra"/><references/>
[[Category: Galactokinase]]
[[Category: Galactokinase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 21:20, 24 March 2013

Template:STRUCTURE 1wuu

Contents

crystal structure of human galactokinase complexed with MgAMPPNP and galactose

Template:ABSTRACT PUBMED 15590630

Disease

[GALK1_HUMAN] Defects in GALK1 are the cause of galactosemia II (GALCT2) [MIM: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.[1][2][3][4][5][6]

Function

[GALK1_HUMAN] Major enzyme for galactose metabolism.

About this Structure

1wuu is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Thoden JB, Timson DJ, Reece RJ, Holden HM. Molecular structure of human galactokinase: implications for type II galactosemia. J Biol Chem. 2005 Mar 11;280(10):9662-70. Epub 2004 Dec 7. PMID:15590630 doi:10.1074/jbc.M412916200
  1. ↑ Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. PMID:10521295 doi:S0002-9297(07)62136-3
  2. ↑ Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53. PMID:10790206 doi:<447::AID-HUMU6>3.0.CO;2-M 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M
  3. ↑ Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. Am J Hum Genet. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. PMID:11231902 doi:S0002-9297(07)61428-1
  4. ↑ Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L. Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-8. PMID:11139256 doi:<77::AID-HUMU20>3.0.CO;2-H 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H
  5. ↑ Timson DJ, Reece RJ. Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem. 2003 Apr;270(8):1767-74. PMID:12694189
  6. ↑ Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. PMID:15024738 doi:10.1002/humu.9223

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