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Mouse Anti-FKBP14 Recombinant Antibody (CAP1034) (CBMAB-AP2292LY)


See all FKBP14 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse
Clone
CAP1034
Antibody Isotype
IgG2b, κ
Application
Dot blot, ELISA, WB

Basic Information

Immunogen
Recombinant human FKBP14 (20-211aa) purified from E. coli
Specificity
Human, Mouse
Antibody Isotype
IgG2b, κ
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
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 14
Introduction
The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
Entrez Gene ID
Human55033
Mouse231997
UniProt ID
HumanQ9NWM8
MouseP59024
Alternative Names
FK506 Binding Protein 14; FK506 Binding Protein 14, 22 KDa; 22 KDa FK506-Binding Protein; PPIase FKBP14; 22 KDa FKBP; Rotamase; FKBP-22; FKBP22; Peptidyl-Prolyl Cis-Trans Isomerase FKBP14;
Function
PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.
Cellular Location
Endoplasmic reticulum lumen
Involvement in disease
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2):
A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine.

Semyachkina, A. N., Nikolaeva, E. A., Galeeva, N. M., Polyakov, A. V., Kurnikova, M. A., Belova, V. А., ... & Dzhivanshiryan, G. V. (2021). Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: An analysis of five cases. F1000Research, 10(502), 502.

Colman, M., Vroman, R., Dhooge, T., Malfait, Z., Symoens, S., Burnyté, B., ... & Syx, D. (2022). Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms. Human Mutation, 43(12), 1994-2009.

Bai, Y., Li, L., & Zhang, Z. (2022). Linc00883 affects colorectal cancer through miR-577/FKBP14 axis: a novel mechanism for regulating colorectal cancer cell proliferation, invasion, and migration. Cell Cycle, 21(22), 2403-2416.

Yang, L., Zhang, R., Yang, J., Bi, T., & Zhou, S. (2019). FKBP14 promotes the proliferation and migration of colon carcinoma cells through targeting IL-6/STAT3 signaling pathway. OncoTargets and therapy, 12, 9069.

Giunta, C., Rohrbach, M., Fauth, C., Baumann, M., Adam, M. P., Ardinger, H. H., ... & Amemiva, A. (2019). FKBP14 Kyphoscoliotic Ehlers-Danlos syndrome.

Lim, P. J., Lindert, U., Opitz, L., Hausser, I., Rohrbach, M., & Giunta, C. (2019). Transcriptome profiling of primary skin fibroblasts reveal distinct molecular features between PLOD1-and FKBP14-kyphoscoliotic Ehlers–Danlos syndrome. Genes, 10(7), 517.

Ghoorun, R. A., Wu, X. H., Chen, H. L., Ren, D. L., & Wu, X. B. (2019). Prognostic significance of fkbp14 in gastric cancer. OncoTargets and therapy, 12, 11567.

Castori, M., Fiorillo, C., Agolini, E., Sacco, M., Minetti, C., Novelli, A., ... & Bertini, E. (2019). Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c. 362dupC variant in FKBP14. American Journal of Medical Genetics Part A, 179(2), 317-321.

Giunta, C., Baumann, M., Fauth, C., Lindert, U., Abdalla, E. M., Brady, A. F., ... & Rohrbach, M. (2018). A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20(1), 42-54.

Wang, K., Qi, X. J., Liu, H. Z., & Su, H. (2018). MiR-361 inhibits osteosarcoma cell lines invasion and proliferation by targeting FKBP14. Eur Rev Med Pharmacol Sci, 22(1), 79-86.

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

Custom Antibody Labeling

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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