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Mouse Anti-FKBP6 Recombinant Antibody (8F10) (CBMAB-A3001-LY)

The product is antibody recognizes FKBP6. The antibody 8F10 immunoassay techniques such as: WB, ELISA.
See all FKBP6 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
8F10
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
FKBP6 (NP_003593.2, 1 a.a. ~ 108 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
FK506 Binding Protein 6
Introduction
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. The protein may have cis-trans prolyl isomerase activity, and binds to clathrin heavy chain and heat shock protein 72. This gene is found to be deleted in Williams syndrome, and the orthologous gene in mouse is essential for fertility and homologous pairing in male meiosis. [provided by RefSeq]
Entrez Gene ID
8468
UniProt ID
O75344
Alternative Names
FKBP36; MGC87179; PPIase
Function
Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity).
Biological Process
Cell differentiation Source: UniProtKB-KW
DNA methylation involved in gamete generation Source: UniProtKB
Gene silencing by RNA Source: UniProtKB
Meiotic cell cycle Source: UniProtKB
piRNA metabolic process Source: UniProtKB
Positive regulation of viral genome replication Source: AgBase
Protein folding Source: UniProtKB
Protein peptidyl-prolyl isomerization Source: GOC
Spermatogenesis Source: UniProtKB
Cellular Location
Cytosol; Nucleus; Chromosome. Does not localize to pi-bodies. Localizes to meiotic chromosome cores and regions of homologous chromosome synapsis (By similarity).
Involvement in disease
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 (PubMed:9782077). A father and son with Williams-Beuren syndrome appear to have a common heterozygous deletion that includes FKBP6 gene. However, the haploinsufficiency for FKBP6 does not appear to preclude male fertility (PubMed:15770126).
Defects in FKBP6 may be a cause of azoospermia. A study based on 323 patients with azoospermia or severe oligozoospermia suggested an association between FKBP6 variants and azoospermia (PubMed:17307919). However, other studies suggest that defects in FKBP6 are not a common cause of non-obstructive azoospermia (PubMed:16227348).
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For research use only. Not intended for any clinical use.

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