4asi

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[[Image:4asi.jpg|left|200px]]
 
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{{STRUCTURE_4asi| PDB=4asi | SCENE= }}
{{STRUCTURE_4asi| PDB=4asi | SCENE= }}
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===Crystal structure of human ACACA C-terminal domain===
===Crystal structure of human ACACA C-terminal domain===
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==Disease==
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[[http://www.uniprot.org/uniprot/ACACA_HUMAN ACACA_HUMAN]] Defects in ACACA are a cause of acetyl-CoA carboxylase 1 deficiency (ACACAD) [MIM:[http://omim.org/entry/613933 613933]]; also known as ACAC deficiency or ACC deficiency. An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.<ref>PMID:6114432</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/ACACA_HUMAN ACACA_HUMAN]] Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase.<ref>PMID:20952656</ref>
==About this Structure==
==About this Structure==
[[4asi]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4ASI OCA].
[[4asi]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4ASI OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Arrowsmith, C H.]]
[[Category: Arrowsmith, C H.]]

Revision as of 00:18, 25 March 2013

Template:STRUCTURE 4asi

Contents

Crystal structure of human ACACA C-terminal domain

Disease

[ACACA_HUMAN] Defects in ACACA are a cause of acetyl-CoA carboxylase 1 deficiency (ACACAD) [MIM:613933]; also known as ACAC deficiency or ACC deficiency. An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.[1]

Function

[ACACA_HUMAN] Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase.[2]

About this Structure

4asi is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Blom W, de Muinck Keizer SM, Scholte HR. Acetyl-CoA carboxylase deficiency: an inborn error of de novo fatty acid synthesis. N Engl J Med. 1981 Aug 20;305(8):465-6. PMID:6114432 doi:http://dx.doi.org/10.1056/NEJM198108203050820
  2. ↑ Colbert CL, Kim CW, Moon YA, Henry L, Palnitkar M, McKean WB, Fitzgerald K, Deisenhofer J, Horton JD, Kwon HJ. Crystal structure of Spot 14, a modulator of fatty acid synthesis. Proc Natl Acad Sci U S A. 2010 Nov 2;107(44):18820-5. Epub 2010 Oct 15. PMID:20952656 doi:10.1073/pnas.1012736107

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