2f2s

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[[Image:2f2s.png|left|200px]]
 
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{{STRUCTURE_2f2s| PDB=2f2s | SCENE= }}
{{STRUCTURE_2f2s| PDB=2f2s | SCENE= }}
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===Human mitochondrial acetoacetyl-CoA thiolase===
===Human mitochondrial acetoacetyl-CoA thiolase===
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==Disease==
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[[http://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:[http://omim.org/entry/203750 203750]]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.<ref>PMID:1346617</ref><ref>PMID:1715688</ref><ref>PMID:7728148</ref><ref>PMID:9744475</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Plays a major role in ketone body metabolism.
==About this Structure==
==About this Structure==
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==See Also==
==See Also==
*[[Thiolase|Thiolase]]
*[[Thiolase|Thiolase]]
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==Reference==
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<references group="xtra"/><references/>
[[Category: Acetyl-CoA C-acetyltransferase]]
[[Category: Acetyl-CoA C-acetyltransferase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 05:07, 25 March 2013

Template:STRUCTURE 2f2s

Contents

Human mitochondrial acetoacetyl-CoA thiolase

Disease

[THIL_HUMAN] Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:203750]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.[1][2][3][4]

Function

[THIL_HUMAN] Plays a major role in ketone body metabolism.

About this Structure

2f2s is a 4 chain structure with sequence from Homo sapiens. This structure supersedes the now removed PDB entry 2es8. Full crystallographic information is available from OCA.

See Also

Reference

  1. ↑ Fukao T, Yamaguchi S, Orii T, Schutgens RB, Osumi T, Hashimoto T. Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. J Clin Invest. 1992 Feb;89(2):474-9. PMID:1346617 doi:http://dx.doi.org/10.1172/JCI115608
  2. ↑ Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T. Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. Biochem Biophys Res Commun. 1991 Aug 30;179(1):124-9. PMID:1715688
  3. ↑ Wakazono A, Fukao T, Yamaguchi S, Hori T, Orii T, Lambert M, Mitchell GA, Lee GW, Hashimoto T. Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. Hum Mutat. 1995;5(1):34-42. PMID:7728148 doi:http://dx.doi.org/10.1002/humu.1380050105
  4. ↑ Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Hum Mutat. 1998;12(4):245-54. PMID:9744475 doi:<245::AID-HUMU5>3.0.CO;2-E 10.1002/(SICI)1098-1004(1998)12:4<245::AID-HUMU5>3.0.CO;2-E

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