3b7x
Crystal structure of human FK506-Binding Protein 6Crystal structure of human FK506-Binding Protein 6
Structural highlights
DiseaseFKBP6_HUMAN Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. FunctionFKBP6_HUMAN PPIases accelerate the folding of proteins. Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See Also |
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