3b7x | pdb_00003b7x

Disease

[FKBP6_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.

Function

[FKBP6_HUMAN] PPIases accelerate the folding of proteins.

About this Structure

3b7x is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

• Cyclophilin

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