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Mouse Anti-CANT1 Recombinant Antibody (CBYY-C0927) (CBMAB-C2364-YY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYY-C0927
Antibody Isotype
IgG2a, κ
Application
ELISA, IP, WB

Basic Information

Immunogen
Recombinant CANT1 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)
ELISA1:100-1:1,000

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

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.1 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.
Epitope
AA 63-401

Target

Full Name
calcium activated nucleotidase 1
Entrez Gene ID
124583
UniProt ID
Q8WVQ1
Function
Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP> GDP> UTP> GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225).
Involved in proteoglycan synthesis (PubMed:22539336).
Biological Process
Neutrophil degranulation Source: Reactome
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Proteoglycan biosynthetic process Source: UniProtKB
Cellular Location
Golgi stack membrane; Endoplasmic reticulum membrane; Cell membrane. Processed form: Secreted.
Involvement in disease
Desbuquois dysplasia 1 (DBQD1): A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.
Epiphyseal dysplasia, multiple, 7 (EDM7): A form of multiple epiphyseal dysplasia, a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. EDM7 inheritance is autosomal recessive.
Topology
Cytoplasmic: 1-44 aa
Helical: 45-62 aa
Lumenal: 63-401 aa
PTM
N-glycosylated.
More Infomation

Qiao, G., Wang, H. B., Duan, X. N., & Yan, X. F. (2021). The effect and mechanism of miR-607/CANT1 axis in lung squamous carcinoma. Anti-Cancer Drugs, 32(7), 693-702.

Thomas, M. M., Ashaat, E. A., Otaify, G. A., Ismail, S., Essawi, M. L., Abdel-Hamid, M. S., ... & Temtamy, S. (2021). First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations. Molecular Syndromology, 12(5), 279-288.

Kodama, K., Takahashi, H., Oiji, N., Nakano, K., Okamura, T., Niimi, K., ... & Furuichi, T. (2020). CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage. FEBS Open bio, 10(6), 1096-1103.

Wang, H. D., Guo, L. J., Feng, Z. Q., Zhang, D. W., Zhang, M. T., Gao, Y., ... & Zhu, B. F. (2020). Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function. Orphanet journal of rare diseases, 15(1), 1-13.

Kuang, L., Liu, B., Peng, R., Xi, D., & Gao, Y. (2020). A novel homozygous variant in CANT1 causes Desbuquois dysplasia type 1 in a Chinese family and review of literatures. International Journal of Clinical and Experimental Pathology, 13(8), 2137.

Paganini, C., Monti, L., Costantini, R., Besio, R., Lecci, S., Biggiogera, M., ... & Rossi, A. (2019). Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification. Matrix Biology, 81, 70-90.

Liu, X., Yang, Z., Luo, X., Luo, J., Fu, W., Fang, Z., ... & Xu, J. (2019). Calcium‐activated nucleotidase 1 silencing inhibits proliferation, migration, and invasion in human clear cell renal cell carcinoma. Journal of cellular physiology, 234(12), 22635-22647.

Menzies, L., Cullup, T., Calder, A., Wilson, L., & Faravelli, F. (2019). A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia. Clinical dysmorphology, 28(4), 219-223.

Balasubramanian, K., Li, B., Krakow, D., Nevarez, L., Ho, P. J., Ainsworth, J. A., ... & Cohn, D. H. (2017). MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1. American Journal of Medical Genetics Part A, 173(9), 2415-2421.

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

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