2yl2
From Proteopedia
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{{STRUCTURE_2yl2| PDB=2yl2 | SCENE= }} | {{STRUCTURE_2yl2| PDB=2yl2 | SCENE= }} | ||
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===CRYSTAL STRUCTURE OF HUMAN ACETYL-COA CARBOXYLASE 1, BIOTIN CARBOXYLASE (BC) DOMAIN=== | ===CRYSTAL STRUCTURE OF HUMAN ACETYL-COA CARBOXYLASE 1, BIOTIN CARBOXYLASE (BC) DOMAIN=== | ||
| + | ==Disease== | ||
| + | [[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== | ||
| + | [[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== | ||
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==See Also== | ==See Also== | ||
*[[Biotin carboxylase|Biotin carboxylase]] | *[[Biotin carboxylase|Biotin carboxylase]] | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Arrowsmith, C H.]] | [[Category: Arrowsmith, C H.]] | ||
Revision as of 04:47, 25 March 2013
Contents |
CRYSTAL STRUCTURE OF HUMAN ACETYL-COA CARBOXYLASE 1, BIOTIN CARBOXYLASE (BC) 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
2yl2 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- ↑ 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
- ↑ 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
