Mouse Anti-COL9A3 Recombinant Antibody (2B5) (V2LY-1206-LY710)

Name: Mouse Anti-COL9A3 Recombinant Antibody (2B5)
SKU: V2LY-1206-LY710
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

2B5

Application

ELISA, WB

Immunogen

COL9A3 (280 a.a. ~ 338 a.a) partial recombinant protein.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgM, κ

Clonality

Monoclonal Antibody

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

Format

Liquid

Buffer

PBS

Preservative

None

Concentration

Batch dependent

Purity

>95% as determined by analysis 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.

More Infomation

Target

Full Name

Collagen Type IX Alpha 3 Chain

Entrez Gene ID

Q14050

UniProt ID

Q14050

Function

Structural component of hyaline cartilage and vitreous of the eye.

Biological Process

Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Female gonad development Source: GO_Central
Male gonad development Source: GO_Central

Cellular Location

Extracellular matrix

Involvement in disease

Multiple epiphyseal dysplasia 3 (EDM3):
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.
Intervertebral disc disease (IDD):
Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to intervertebral disk disease is conferred by variant p.Arg103Trp (PubMed:11308397). A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.

PTM

Covalently linked to the telopeptides of type II collagen by lysine-derived cross-links.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Nash, B. M., Watson, C. J., Hughes, E., Hou, A. L., Loi, T. H., Bennetts, B., ... & Jamieson, R. V. (2021). Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. European Journal of Human Genetics, 29(5), 881-886.

Markova, T., Sparber, P., Borovikov, A., Nagornova, T., & Dadali, E. (2021). Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene. Molecular Genetics & Genomic Medicine, 9(3), e1620.

Zhang, P., & Chang, B. G. (2020). Inhibitory effect on the apoptosis of disc nucleus pulposus cells in rats by silencing COL9A3 gene to mediate MAPK signaling pathway: a study on the function and mechanism. Eur Rev Med Pharmacol Sci, 24(17), 8653-8664.

Nixon, T. R., Alexander, P., Richards, A., McNinch, A., Bearcroft, P. W., Cobben, J., & Snead, M. P. (2019). Homozygous type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—expanding the phenotype. American Journal of Medical Genetics Part A, 179(8), 1498-1506.

Huang, D., Deng, X., Ma, K., Wu, F., Shi, D., Liang, H., ... & Shao, Z. (2018). Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis. BMC Musculoskeletal Disorders, 19(1), 1-10.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

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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