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FK506-BINDING PROTEIN 6; FKBP6 OKDB#: 1809
 Symbols: FK506-BINDING PROTEIN 6; FKBP6 Species: human
 Synonyms: FK506-BINDING PROTEIN, 36-KD|  Locus: 7q11.23 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Fkbp6 localizes to meiotic chromosome cores and regions of homologous chromosome synapsis. Targeted inactivation of Fkbp6 in mice resulted in aspermic males and the absence of normal pachytene spermatocytes.

NCBI Summary: The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. This gene is found to be deleted in Williams syndrome.
General function
Comment
Cellular localization Nuclear
Comment
Ovarian function Oogenesis
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment Crackower, et al 2003 demonstrated the essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. FKBP6 was strongly expressed in female meiotic cells. Histological analysis showed that ovaries and the differentiation of oocytes were comparable between Fkbp6?/? female and control littermates (fig. S7). Moreover, Fkbp6?/? oocytes progressed normally through all stages of meiosis and continued into late prophase and metaphase I. Alignment of chromosomes, chromosome pairing, Rad51/Dmc1 expression, and chromosome separation in meiotic oocytes of Fkbp6?/? females also appeared normal.
Follicle stages Antral, Preovulatory
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 3, 2003, 12:43 p.m. by: hsueh   email:
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last update: June 13, 2003, 8:51 p.m. by: system    email:



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