Mouse Anti-FKBP6 Recombinant Antibody (AT9B7) (CBMAB-F2937-CQ)

Name: Mouse Anti-FKBP6 Recombinant Antibody (AT9B7)
SKU: CBMAB-F2937-CQ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

AT9B7

Application

ELISA, WB

Specificity

Human

Antibody Isotype

IgG1

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!]

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

FK506 Binding Protein 6

Introduction

The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants.

Entrez Gene ID

8468

UniProt ID

O75344

Alternative Names

FK506 Binding Protein 6; Immunophilin FKBP36; FK506 Binding Protein 6, 36kDa; Inactive PPIase FKBP6; 36 KDa FKBP; Rotamase; FKBP36; Inactive Peptidyl-Prolyl Cis-Trans Isomerase FKBP6; Peptidyl-Prolyl Cis-Trans Isomerase FKBP6;

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).

Wyrwoll, M. J., Gaasbeek, C. M., Golubickaite, I., Stakaitis, R., Oud, M. S., Nagirnaja, L., ... & van der Heijden, G. W. (2022). The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans. The American Journal of Human Genetics, 109(10), 1850-1866.

Castaneda, C., Juras, R., Kjöllerström, J., Hernandez Aviles, C., Teague, S. R., Love, C. C., ... & Raudsepp, T. (2021). Thoroughbred stallion fertility is significantly associated with FKBP6 genotype but not with inbreeding or the contribution of a leading sire. Animal Genetics, 52(6), 813-823.

Vilariño-Güell, C., Encarnacion, M., Bernales, C. Q., & Sadovnick, A. D. (2019). Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease. Multiple Sclerosis Journal, 25(7), 1011-1013.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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Isotype control

For research use only. Not intended for any clinical use.

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We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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