1t77
From Proteopedia
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{{STRUCTURE_1t77| PDB=1t77 | SCENE= }} | {{STRUCTURE_1t77| PDB=1t77 | SCENE= }} | ||
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===Crystal structure of the PH-BEACH domains of human LRBA/BGL=== | ===Crystal structure of the PH-BEACH domains of human LRBA/BGL=== | ||
| + | {{ABSTRACT_PUBMED_15554694}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/LRBA_HUMAN LRBA_HUMAN]] Defects in LRBA are the cause of immunodeficiency, common variable, type 8, with autoimmunity (CVID8) [MIM:[http://omim.org/entry/614700 614700]]. An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.<ref>PMID:22608502</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/LRBA_HUMAN LRBA_HUMAN]] May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:015554694</ref><references group="xtra"/> | + | <ref group="xtra">PMID:015554694</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Gebauer, D.]] | [[Category: Gebauer, D.]] | ||
Revision as of 17:17, 24 March 2013
Contents |
Crystal structure of the PH-BEACH domains of human LRBA/BGL
Template:ABSTRACT PUBMED 15554694
Disease
[LRBA_HUMAN] Defects in LRBA are the cause of immunodeficiency, common variable, type 8, with autoimmunity (CVID8) [MIM:614700]. An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.[1]
Function
[LRBA_HUMAN] May be involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity).
About this Structure
1t77 is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Gebauer D, Li J, Jogl G, Shen Y, Myszka DG, Tong L. Crystal structure of the PH-BEACH domains of human LRBA/BGL. Biochemistry. 2004 Nov 30;43(47):14873-80. PMID:15554694 doi:10.1021/bi049498y
- ↑ Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schaffer AA, Hammarstrom L, Grimbacher B. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi: 10.1016/j.ajhg.2012.04.015. Epub , 2012 May 17. PMID:22608502 doi:10.1016/j.ajhg.2012.04.015
