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3b7x

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3b7x, resolution 2.10Å ()
Gene: FKBP6, FKBP36 (Homo sapiens)
Activity: Peptidylprolyl isomerase, with EC number 5.2.1.8
Resources: FirstGlance, OCA, RCSB, PDBsum
Coordinates: save as pdb, mmCIF, xml


Contents

Crystal structure of human FK506-Binding Protein 6

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

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OCA

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