2pmv

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[[Image:2pmv.png|left|200px]]
 
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{{STRUCTURE_2pmv| PDB=2pmv | SCENE= }}
{{STRUCTURE_2pmv| PDB=2pmv | SCENE= }}
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===Crystal Structure of Human Intrinsic Factor- Cobalamin Complex at 2.6 A Resolution===
===Crystal Structure of Human Intrinsic Factor- Cobalamin Complex at 2.6 A Resolution===
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{{ABSTRACT_PUBMED_17954916}}
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{{ABSTRACT_PUBMED_17954916}}
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==Disease==
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[[http://www.uniprot.org/uniprot/IF_HUMAN IF_HUMAN]] Defects in GIF are the cause of hereditary intrinsic factor deficiency (IFD) [MIM:[http://omim.org/entry/261000 261000]]; also known as congenital pernicious anemia. IFD is an autosomal recessive disorder characterized by megaloblastic anemia.<ref>PMID:15738392</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/IF_HUMAN IF_HUMAN]] Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:017954916</ref><references group="xtra"/>
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<ref group="xtra">PMID:017954916</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Alpers, D H.]]
[[Category: Alpers, D H.]]

Revision as of 20:28, 24 March 2013

Template:STRUCTURE 2pmv

Contents

Crystal Structure of Human Intrinsic Factor- Cobalamin Complex at 2.6 A Resolution

Template:ABSTRACT PUBMED 17954916

Disease

[IF_HUMAN] Defects in GIF are the cause of hereditary intrinsic factor deficiency (IFD) [MIM:261000]; also known as congenital pernicious anemia. IFD is an autosomal recessive disorder characterized by megaloblastic anemia.[1]

Function

[IF_HUMAN] Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the GIF-cobalamin complex is internalized via receptor-mediated endocytosis.

About this Structure

2pmv is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Mathews FS, Gordon MM, Chen Z, Rajashankar KR, Ealick SE, Alpers DH, Sukumar N. Crystal structure of human intrinsic factor: cobalamin complex at 2.6-A resolution. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17311-6. Epub 2007 Oct 22. PMID:17954916
  1. ↑ Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Grasbeck R, de la Chapelle A. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. Epub 2005 Feb 28. PMID:15738392 doi:0500517102

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