2lkq

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[[Image:2lkq.png|left|200px]]
 
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{{STRUCTURE_2lkq| PDB=2lkq | SCENE= }}
{{STRUCTURE_2lkq| PDB=2lkq | SCENE= }}
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===NMR structure of the lambda 5 22-45 peptide===
===NMR structure of the lambda 5 22-45 peptide===
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{{ABSTRACT_PUBMED_23124203}}
{{ABSTRACT_PUBMED_23124203}}
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==Disease==
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[[http://www.uniprot.org/uniprot/IGLL1_HUMAN IGLL1_HUMAN]] Defects in IGLL1 are the cause of agammaglobulinemia type 2 (AGM2) [MIM:[http://omim.org/entry/613500 613500]]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.
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==Function==
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[[http://www.uniprot.org/uniprot/IGLL1_HUMAN IGLL1_HUMAN]] Critical for B-cell development.<ref>PMID:9419212</ref>
==About this Structure==
==About this Structure==
[[2lkq]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LKQ OCA].
[[2lkq]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2LKQ OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Boned, A.]]
[[Category: Boned, A.]]
[[Category: Bornet, O.]]
[[Category: Bornet, O.]]

Revision as of 23:38, 24 March 2013

Template:STRUCTURE 2lkq

Contents

NMR structure of the lambda 5 22-45 peptide

Template:ABSTRACT PUBMED 23124203

Disease

[IGLL1_HUMAN] Defects in IGLL1 are the cause of agammaglobulinemia type 2 (AGM2) [MIM:613500]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

Function

[IGLL1_HUMAN] Critical for B-cell development.[1]

About this Structure

2lkq is a 1 chain structure. Full experimental information is available from OCA.

Reference

  1. ↑ Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med. 1998 Jan 5;187(1):71-7. PMID:9419212

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OCA

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