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FLASH GENE
Symbol FKBP6 contributors: mct - updated : 26-04-2017
HGNC name FK506 binding protein 6, 36kDa
HGNC id 3722
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
included in the Williams-Beuren commonly deleted region
constitutional     --low  
results in abnormal pairing and a misalignment of the homologous chromosomes, and in non-homologous partner switches and autosynapsis of the X chromosome cores in meiotic spermatocytes
Susceptibility to male infertility
Variant & Polymorphism other allele A of c.216C>A seems to be a protective factor for the development of male infertility
Candidate gene hypofertility in WBS
Marker
Therapy target
ANIMAL & CELL MODELS
homozygous fkbp6-/- male mice are infertile