FKBP6
Encyclopedia
FK506 binding protein 6, also known as FKBP6, is a human gene
. The encoded protein
shows structural homology to FKBP
immunophilins
, which bind to the immunosuppressants FK506 and rapamycin.
FKBP6 is essential for homologous chromosome pairing in meiosis
during spermatogenesis. Targeted inactivation of FKBP6 in mice results in infertile males, but apparently normal females. Rats with spermatogenic failure at meiosis were found to have a deletion in the exon 8 portion of the FKBP6 gene. Mutations in this gene have been associated with male infertility in humans.
FKBP6 is deleted in Williams syndrome
, however this hemizygous loss of FKBP6 is not associated with infertility.
FKBP6 contains 3 α-helices and 11 β-sheet strands, and as a FK506-family protein, has been shown to be a potent immunosuppressant which can assist in the prevention of allograft rejections.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
. The encoded protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
shows structural homology to FKBP
FKBP
FKBP, or FK506 binding protein, is a family of proteins that have prolyl isomerase activity and are related to the cyclophilins in function, though not in amino acid sequence. FKBPs have been identified in many eukaryotes from yeast to humans and function as protein folding chaperones for proteins...
immunophilins
Immunophilins
In molecular biology, immunophilins are endogenous cytosolic peptidyl-prolyl isomerases that interconvert between the cis and trans positions.Immunophilins are targeted by immunosuppressive drugs such as rapamycin, ciclosporin, and tacrolimus...
, which bind to the immunosuppressants FK506 and rapamycin.
FKBP6 is essential for homologous chromosome pairing in meiosis
Meiosis
Meiosis is a special type of cell division necessary for sexual reproduction. The cells produced by meiosis are gametes or spores. The animals' gametes are called sperm and egg cells....
during spermatogenesis. Targeted inactivation of FKBP6 in mice results in infertile males, but apparently normal females. Rats with spermatogenic failure at meiosis were found to have a deletion in the exon 8 portion of the FKBP6 gene. Mutations in this gene have been associated with male infertility in humans.
FKBP6 is deleted in Williams syndrome
Williams syndrome
Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as...
, however this hemizygous loss of FKBP6 is not associated with infertility.
FKBP6 contains 3 α-helices and 11 β-sheet strands, and as a FK506-family protein, has been shown to be a potent immunosuppressant which can assist in the prevention of allograft rejections.