1t77
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Crystal structure of the PH-BEACH domains of human LRBA/BGL
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Structural highlights
DiseaseLRBA_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] FunctionLRBA_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). Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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This page was last modified 08:37, 14 February 2024.