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Mouse Anti-EXT2 (AA 216-315) Recombinant Antibody (CBFYE-1416) (CBMAB-E2040-FY)

This product is mouse antibody that recognizes EXT2. The antibody CBFYE-1416 can be used for immunoassay techniques such as: ELISA, WB.
See all EXT2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYE-1416
Antibody Isotype
IgG1, κ
Application
ELISA, WB

Basic Information

Immunogen
Partial recombinant corresponding to aa216-315 from human EXT2 with GST tag. MW of the GST tag alone is 26kD.
Specificity
Human
Antibody Isotype
IgG1, 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
Buffer
PBS, pH 7.2
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 216-315

Target

Full Name
exostoses (multiple) 2
Introduction
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
Entrez Gene ID
2132
UniProt ID
Q93063
Alternative Names
Exostosin Glycosyltransferase 2; Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase; N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase; Putative Tumor Suppressor Protein EXT2; Multiple Exostoses Protein 2; Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase; Exostoses (Multiple) 2
Research Area
Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
Biological Process
Cell differentiation Source: Ensembl
Cellular polysaccharide biosynthetic process Source: BHF-UCL
Cellular response to fibroblast growth factor stimulus Source: Ensembl
Endochondral bone morphogenesis Source: Ensembl
Fluid transport Source: Ensembl
Gene expression Source: Ensembl
Glycosaminoglycan biosynthetic process Source: BHF-UCL
Heart contraction Source: Ensembl
Heparan sulfate proteoglycan biosynthetic process Source: BHF-UCL
Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: BHF-UCL
Heparin biosynthetic process Source: Ensembl
Mesoderm formation Source: Ensembl
Multicellular organismal water homeostasis Source: Ensembl
Ossification Source: BHF-UCL
Protein N-linked glycosylation Source: Ensembl
Regulation of blood pressure Source: Ensembl
Signal transduction Source: ProtInc
Sodium ion homeostasis Source: Ensembl
Sulfation Source: Ensembl
Vasodilation Source: Ensembl
Cellular Location
Endoplasmic reticulum membrane; Golgi apparatus membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus.
Involvement in disease
Hereditary multiple exostoses 2 (EXT2):
EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.
Potocki-Shaffer syndrome (POSHS):
A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS):
An autosomal recessive syndrome characterized by seizures, intellectual disability, hypotonia, scoliosis, macrocephaly, hypertelorism and renal dysfunction.
Topology
Cytoplasmic: 1-25
Helical: 26-46
Lumenal: 47-718

Sabir, A. H., Singhal, J., Man, J., Cooper, N., Cheung, M., & Irving, M. (2022). Autosomal recessive EXT2 syndrome-extending the phenotypic spectrum of an emerging condition, a further case?. Clinical Dysmorphology, 31(2), 84-90.

Wang, W., Yang, M., Shen, Y., Chen, K., Wu, D., Yang, C., ... & Gao, J. (2022). Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation. Molecular Medicine Reports, 25(4), 1-8.

Al-Zayed, Z., Al-Rijjal, R. A., Al-Ghofaili, L., BinEssa, H. A., Pant, R., Alrabiah, A., ... & Shi, Y. (2021). Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses. Orphanet Journal of Rare Diseases, 16(1), 1-11.

Yang, M., Xie, H., Xu, B., Xiang, Q., Wang, H., Hu, T., & Liu, S. (2021). Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole‐exome sequencing. Journal of clinical laboratory analysis, 35(9), e23968.

Tong, Y., Zhang, Y., Luo, J., Hong, Z., Chen, X., & Bi, Q. (2021). Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas. Genetic Testing and Molecular Biomarkers, 25(2), 145-151.

Chen, Z., Ruan, W., Li, M., Cao, L., Lu, J., Zhong, F., & Bi, Q. (2020). A novel nonsense mutation in the EXT2 gene identified in a family with hereditary multiple osteochondromas. Genetic Testing and Molecular Biomarkers, 24(8), 478-483.

Gentile, M., Agolini, E., Cocciadiferro, D., Ficarella, R., Ponzi, E., Bellacchio, E., ... & Novelli, A. (2019). Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype. Clinical Genetics, 95(1), 165-171.

Nadanaka, S., & Kitagawa, H. (2018). Exostosin-like 2 regulates FGF2 signaling by controlling the endocytosis of FGF2 General subjects.

Chen, Z., Bi, Q., Kong, M., Cao, L., & Ruan, W. (2018). A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas. Oncology Letters, 16(4), 5167-5171.

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

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