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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Fkbp6  -  FK506 binding protein 6

Mus musculus

Synonyms: 1700008G22Rik, 36 kDa FK506-binding protein, 36 kDa FKBP, 36kDa, AU017274, ...
 
 
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Disease relevance of Fkbp6

  • Is a genetic defect in Fkbp6 a common cause of azoospermia in humans [1]?
 

High impact information on Fkbp6

  • Recently, the targeted inactivation of Fkbp6 in mice has been observed to result in aspermic males and the absence of normal pachytene spermatocytes [1].
  • The loss of Fkbp6 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 [1].
  • We recently identified a causative mutation for the aspermia phenotype of the as homozygous rats in the gene encoding Fkbp6, a member of the immunophilins FK506 binding proteins [2].
  • We have isolated a gene from a cDNA library generated from the thymus of a mouse with severe combined immune deficiency, termed FKBP9, that encodes a protein related to FK506-binding protein 6 (65 kDa, FKBP65) [3].

References

  1. Is a genetic defect in Fkbp6 a common cause of azoospermia in humans? Miyamato, T., Sato, H., Yogev, L., Kleiman, S., Namiki, M., Koh, E., Sakugawa, N., Hayashi, H., Ishikawa, M., Lamb, D.J., Sengoku, K. Cell. Mol. Biol. Lett. (2006) [Pubmed]
  2. Fine mapping of a region of rat chromosome 12 close to the aspermia (as) locus and comparison with the human orthologous regions. Noguchi, J., Kobayashi, E., Akiyama, K., Kawai, Y., Ozawa, M., Ohnuma, K., Kikuchi, K., Kaneko, H., Kunieda, T. Exp. Anim. (2004) [Pubmed]
  3. Identification and genetic mapping of the mouse Fkbp9 gene encoding a new member of FK506-binding protein family. Jo, D., Lyu, M.S., Cho, E.G., Park, D., Kozak, C.A., Kim, M.G. Mol. Cells (2001) [Pubmed]
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