1d6v: Difference between revisions
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{{STRUCTURE_1d6v| PDB=1d6v | SCENE= }} | {{STRUCTURE_1d6v| PDB=1d6v | SCENE= }} | ||
===CONFORMATION EFFECTS IN BIOLOGICAL CATALYSIS INTRODUCED BY OXY-COPE ANTIBODY MATURATION=== | ===CONFORMATION EFFECTS IN BIOLOGICAL CATALYSIS INTRODUCED BY OXY-COPE ANTIBODY MATURATION=== | ||
{{ABSTRACT_PUBMED_10651626}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/IGKC_HUMAN IGKC_HUMAN]] Defects in IGKC are the cause of immunoglobulin kappa light chain deficiency (IGKCD) [MIM:[http://omim.org/entry/614102 614102]]. IGKCD is a disease characterized by the complete absence of immunoglobulin kappa chains.<ref>PMID:3931219</ref> [[http://www.uniprot.org/uniprot/IGHG1_HUMAN IGHG1_HUMAN]] Defects in IGHG1 are a cause of multiple myeloma (MM) [MIM:[http://omim.org/entry/254500 254500]]. MM is a malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. Note=A chromosomal aberration involving IGHG1 is found in multiple myeloma. Translocation t(11;14)(q13;q32) with the IgH locus. Translocation t(11;14)(q13;q32) with CCND1; translocation t(4;14)(p16.3;q32.3) with FGFR3; translocation t(6;14)(p25;q32) with IRF4. | |||
==About this Structure== | ==About this Structure== | ||
[[1d6v]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens | [[1d6v]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1D6V OCA]. | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:010651626</ref><references group="xtra"/> | <ref group="xtra">PMID:010651626</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hanson, M A.]] | [[Category: Hanson, M A.]] | ||
[[Category: Mundorff, E C.]] | [[Category: Mundorff, E C.]] | ||