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Mouse Anti-ANKRD11 Recombinant Antibody (E-4) (CBMAB-A2773-YC)

Provided herein is a Mouse monoclonal antibody against Human Ankyrin Repeat Domain 11. The antibody can be used for immunoassay techniques, such as WB, IP, IF, ELISA.
See all ANKRD11 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
E-4
Antibody Isotype
IgG2a, κ
Application
WB, IP, IF, ELISA

Basic Information

Immunogen
Amino acids 1545-1778 mapping within an internal region of ANKRD11 of human origin.
Host Species
Mouse
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.
ApplicationNote
WB1:100-1:1,000
IP1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
IF(ICC)1:50-1:500
ELISA1:30-1:3,000

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

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.2 mg/ml
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Ankyrin Repeat Domain 11
Introduction
ANKRD11 is an ankryin repeat domain-containing protein. ANKRD11 inhibits ligand-dependent activation of transcription. Mutations in ANKRD11 have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, s
Entrez Gene ID
29123
UniProt ID
Q6UB99
Alternative Names
Ankyrin Repeat Domain 11; Ankyrin Repeat-Containing Cofactor 1; ANCO1; Truncated Ankyrin Repeat Domain 11 Aberrant Transcript 1; Truncated Ankyrin Repeat Domain 11 Aberrant Transcript 2; Nasopharyngeal Carcinoma Susceptibility Protein;
Function
Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).
Biological Process
Anatomical structure morphogenesis Source: GO_Central
Face morphogenesis Source: MGI
Odontogenesis of dentin-containing tooth Source: MGI
Skeletal system morphogenesis Source: MGI
Cellular Location
Nucleus. Localizes to chromatin during prometaphase.
Involvement in disease
KBG syndrome (KBGS): A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
PTM
Subject to proteasomal degradation which is probably essential to regulate its activity.

Parenti, I., Mallozzi, M. B., Hüning, I., Gervasini, C., Kuechler, A., Agolini, E., ... & Kaiser, F. J. (2021). ANKRD11 variants: KBG syndrome and beyond. Clinical Genetics.

Chen, J., Xia, Z., Zhou, Y., Ma, X., Wang, X., & Guo, Q. (2021). A de novo frameshift variant of ANKRD11 (c. 1366_1367dup) in a Chinese patient with KBG syndrome. BMC medical genomics, 14(1), 1-7.

Ilaria, P., Mallozzi, M. B., Irina, H., Gervasini, C. C. G., Alma, K., Emanuele, A., ... & Kaiser, F. J. (2021). ANKRD11 variants: KBG syndrome and beyond.

Roth, D. M., Baddam, P., Lin, H., Vidal-García, M., Aponte, J. D., De Souza, S. T., ... & Voronova, A. (2021). The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development. Frontiers in cell and developmental biology, 9, 985.

Kim, S. J., Yang, A., Park, J. S., Kwon, D. G., Lee, J. S., Kwon, Y. S., & Lee, J. E. (2020). Two novel mutations of ANKRD11 gene and wide clinical spectrum in KBG syndrome: case reports and literature review. Frontiers in Genetics, 11.

Seo, G. H., Oh, A., Kang, M., Kim, E. N., Jang, J. H., Kim, D. Y., ... & Lee, B. H. (2019). An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome. Journal of Genetic Medicine, 16(1), 39-42.

Alves, R. M., Uva, P., Veiga, M. F., Oppo, M., Zschaber, F. C., Porcu, G., ... & Crisponi, L. (2019). Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report. BMC medical genetics, 20(1), 1-7.

Morton, V. H., Quinlan‐Jones, E., Butts, N., Williams, D., Hamilton, S., Marton, T., & Morris, K. (2018). The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24. 2q24. 3 containing multiple genes including ANKRD11 associated with the disorder. Clinical case reports, 6(1), 189.

De Bernardi, M. L., Ivanovski, I., Caraffi, S. G., Maini, I., Street, M. E., Bayat, A., ... & Garavelli, L. (2018). Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11. American Journal of Medical Genetics Part A, 176(9), 1991-1995.

Bianchi, P. M., Bianchi, A., Digilio, M. C., Tucci, F. M., Sitzia, E., & De Vincentiis, G. C. (2017). Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. International journal of pediatric otorhinolaryngology, 103, 109-112.

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

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