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Mouse Anti-COL4A6 Recombinant Antibody (1G11) (CBMAB-C4134-LY)

This product is antibody recognizes COL4A6. The antibody 1G11 immunoassay techniques such as: ELISA.
See all COL4A6 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
1G11
Antibody Isotype
IgG2a, κ
Application
ELISA

Basic Information

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.

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

Format
Liquid
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
Collagen Type IV Alpha 6 Chain
Introduction
COL4A6 (Collagen Type IV Alpha 6 Chain) is a Protein Coding gene. Diseases associated with COL4A6 include Deafness, X-Linked 6 and X-Linked Non-Syndromic Sensorineural Deafness Type Dfn. Among its related pathways are Integrin Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include structural molecule activity and extracellular matrix structural constituent.
An important paralog of this gene is COL4A2.
Entrez Gene ID
1288
UniProt ID
Q14031
Alternative Names
Collagen Type IV Alpha 6 Chain; Collagen, Type IV, Alpha 6; Collagen Of Basement Membrane, Alpha-6; DJ889N15.4 (Collagen Alpha 6(IV)); Collagen IV, Alpha-6 Polypeptide; Collagen Alpha-6(IV) Chain;
Function
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
Biological Process
Cell adhesion Source: UniProtKB-KW
Collagen-activated tyrosine kinase receptor signaling pathway Source: GO_Central
Collagen fibril organization Source: Reactome
Extracellular matrix organization Source: GO_Central
Cellular Location
Basement membrane
Involvement in disease
Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).
Deafness, X-linked, 6 (DFNX6):
A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
PTM
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.

O’Brien, A., Aw, W. Y., Tee, H. Y., Naegeli, K. M., Bademci, G., Tekin, M., ... & Pandya, A. (2022). Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications. European Journal of Human Genetics, 30(1), 7-12.

Tang, S., Yonezawa, T., Maeda, Y., Ono, M., Maeba, T., Miyoshi, T., ... & Oohashi, T. (2021). Lack of collagen α6 (IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation. Plos one, 16(4), e0249909.

Thomas, M. H., Gui, Y., Garcia, P., Karout, M., Gomez Ramos, B., Jaeger, C., ... & Buttini, M. (2021). Quantitative trait locus mapping identifies a locus linked to striatal dopamine and points to collagen IV alpha‐6 chain as a novel regulator of striatal axonal branching in mice. Genes, Brain and Behavior, 20(8), e12769.

Mamoor, S. (2021). Differential expression of collagen type IV alpha 6 chain in human epithelial ovarian cancer.

Ma, J. B., Bai, J. Y., Zhang, H. B., Gu, L., He, D., & Guo, P. (2020). Downregulation of collagen COL4A6 is associated with prostate cancer progression and metastasis. Genetic Testing and Molecular Biomarkers, 24(7), 399-408.

Komori, T., Ono, M., Hara, E. S., Ueda, J., Nguyen, H. T. T., Nguyen, H. T., ... & Oohashi, T. (2018). Type IV collagen α6 chain is a regulator of keratin 10 in keratinization of oral mucosal epithelium. Scientific reports, 8(1), 1-11.

Wang, X., Li, W., Wei, K., Xiao, R., Wang, J., Ma, H., ... & Li, C. (2018). Missense mutations in COL4A5 or COL4A6 genes may cause cerebrovascular fibromuscular dysplasia: case report and literature review. Medicine, 97(30).

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

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