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Rabbit Anti-KMT2D Recombinant Antibody (9H13L17) (CBMAB-K1433-LY)

This product is antibody recognizes KMT2D. The antibody 9H13L17 immunoassay techniques such as: FC, ICC, IF.
See all KMT2D antibodies

Summary

Host Animal
Rabbit
Specificity
Human
Clone
9H13L17
Antibody Isotype
IgG
Application
FC, ICC, IF

Basic Information

Immunogen
Peptides corresponding to Human KMT2D (aa 2-15, 1071-1082)
Specificity
Human
Antibody Isotype
IgG
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
Preservative
0.09% sodium azide
Concentration
0.5 mg/ml
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
LYSINE METHYLTRANSFERASE 2D
Introduction
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Entrez Gene ID
UniProt ID
Alternative Names
Lysine Methyltransferase 2D; Myeloid/Lymphoid Or Mixed-Lineage Leukemia 2; Lysine (K)-Specific Methyltransferase 2D; Trinucleotide Repeat Containing 21; Lysine N-Methyltransferase 2D; ALL1-Related Protein; MLL2; MLL4; ALR; Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 2; Histone-Lysine N-Methyltransferase MLL2;
Function
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738).
Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17500065).
Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732).
Cellular Location
Nucleus
Involvement in disease
Kabuki syndrome 1 (KABUK1):
A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.

Dhar, S. S., & Lee, M. G. (2021). Cancer-epigenetic function of the histone methyltransferase KMT2D and therapeutic opportunities for the treatment of KMT2D-deficient tumors. Oncotarget, 12(13), 1296.

Heward, J., Koniali, L., D’Avola, A., Close, K., Yeomans, A., Philpott, M., ... & Fitzgibbon, J. (2021). KDM5 inhibition offers a novel therapeutic strategy for the treatment of KMT2D mutant lymphomas. Blood, The Journal of the American Society of Hematology, 138(5), 370-381.

Alam, H., Tang, M., Maitituoheti, M., Dhar, S. S., Kumar, M., Han, C. Y., ... & Lee, M. G. (2020). KMT2D deficiency impairs super-enhancers to confer a glycolytic vulnerability in lung cancer. Cancer cell, 37(4), 599-617.

Wang, G., Chow, R. D., Zhu, L., Bai, Z., Ye, L., Zhang, F., ... & Chen, S. (2020). CRISPR-GEMM pooled mutagenic screening identifies KMT2D as a major modulator of immune checkpoint blockade. Cancer discovery, 10(12), 1912-1933.

Sun, P., Wu, T., Sun, X., Cui, Z., Zhang, H., Xia, Q., & Zhang, D. (2019). KMT2D inhibits the growth and metastasis of bladder Cancer cells by maintaining the tumor suppressor genes. Biomedicine & Pharmacotherapy, 115, 108924.

Fagan, R. J., & Dingwall, A. K. (2019). COMPASS Ascending: Emerging clues regarding the roles of MLL3/KMT2C and MLL2/KMT2D proteins in cancer. Cancer letters, 458, 56-65.

Li, S. S., Jiang, W. L., Xiao, W. Q., Li, K., Zhang, Y. F., Guo, X. Y., ... & Wan, R. (2019). KMT2D deficiency enhances the anti-cancer activity of L48H37 in pancreatic ductal adenocarcinoma. World Journal of Gastrointestinal Oncology, 11(8), 599.

Xiong, W., Deng, Z., Tang, Y., Deng, Z., & Li, M. (2018). Downregulation of KMT2D suppresses proliferation and induces apoptosis of gastric cancer. Biochemical and biophysical research communications, 504(1), 129-136.

Ardeshir-Larijani, F., Bhateja, P., Lipka, M. B., Sharma, N., Fu, P., & Dowlati, A. (2018). KMT2D mutation is associated with poor prognosis in non–small-cell lung cancer. Clinical lung cancer, 19(4), e489-e501.

Lv, S., Ji, L., Chen, B., Liu, S., Lei, C., Liu, X., ... & Lu, L. (2018). Histone methyltransferase KMT2D sustains prostate carcinogenesis and metastasis via epigenetically activating LIFR and KLF4. Oncogene, 37(10), 1354-1368.

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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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