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Mouse Anti-COL4A1 Recombinant Antibody (CBFYC-2065) (CBMAB-C2131-FY)

This product is mouse antibody that recognizes COL4A1. The antibody CBFYC-2065 can be used for immunoassay techniques such as: ELISA, IHC, WB.
See all COL4A1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYC-2065
Antibody Isotype
IgG2b
Application
ELISA, IHC, WB

Basic Information

Immunogen
Collagen Type IV, extracellular
Specificity
Human
Antibody Isotype
IgG2b
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
Buffer
PBS, pH 7.2, 1% BSA
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Collagen Type IV Alpha 1 Chain
Introduction
This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
UniProt ID
Alternative Names
BSVD; RATOR
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.

Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation.
Biological Process
Basement membrane organization Source: BHF-UCL
Blood vessel morphogenesis Source: BHF-UCL
Brain development Source: BHF-UCL
Branching involved in blood vessel morphogenesis Source: BHF-UCL
Cellular response to amino acid stimulus Source: Ensembl
Collagen-activated tyrosine kinase receptor signaling pathway Source: Ensembl
Collagen fibril organization Source: Reactome
Epithelial cell differentiation Source: Ensembl
Extracellular matrix organization Source: GO_Central
Neuromuscular junction development Source: Ensembl
Renal tubule morphogenesis Source: BHF-UCL
Retinal blood vessel morphogenesis Source: BHF-UCL
Cellular Location
Basement membrane
Involvement in disease
Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC):
The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries.
Brain small vessel disease 1 with or without ocular anomalies (BSVD1):
An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid-filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies.
Intracerebral hemorrhage (ICH):
A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke.
Tortuosity of retinal arteries (RATOR):
A disease characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma.
Schizencephaly (SCHZC):
Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid.
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant (PADMAL):
The disease is caused by variants affecting the gene represented in this entry. Causative mutations affect a binding site for miR-29 microRNA located within the 3'UTR of COL4A1 and lead to an up-regulation of this gene. A form of cerebral small vessel disease characterized by the recurrence of ischemic strokes starting in the thirties or forties, and associated with progressive imbalance and cognitive impairment. MRI examination shows ischemic lacunas in the pons and cerebral hemispheres, and diffuse leukoencephalopathy affecting various brain regions.
PTM
Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated. The modified lysines can be O-glycosylated.
Contains 4-hydroxyproline (Probable). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains (By similarity).
Contains 3-hydroxyproline. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.
Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding (PubMed:2844531). 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 (sulfilimine cross-links) between Lys and Met residues (PubMed:12011424). These cross-links are important for the mechanical stability of the basement membrane (By similarity).
Proteolytic processing produces the C-terminal NC1 peptide, arresten.

Nakamura, Y., Okanishi, T., Yamada, H., Okazaki, T., Hosoda, C., Itai, T., ... & Maegaki, Y. (2021). Progressive cerebral atrophies in three children with COL4A1 mutations. Brain and Development, 43(10), 1033-1038.

Nandeesh, B. N., Bindu, P. S., Narayanappa, G., Chickabasaviah Yasha, T., Mahadevan, A., Kulanthaivelu, K., & Santosh, V. (2020). Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report. Neuropathology, 40(1), 93-98.

Wang, T., Jin, H., Hu, J., Li, X., Ruan, H., Xu, H., ... & Hao, Y. (2020). COL4A1 promotes the growth and metastasis of hepatocellular carcinoma cells by activating FAK-Src signaling. Journal of Experimental & Clinical Cancer Research, 39(1), 1-16.

Okano, S., Shimada, S., Tanaka, R., Okayama, A., Kajihama, A., Suzuki, N., ... & Azuma, H. (2020). Life-threatening muscle complications of COL4A1-related disorder. Brain and Development, 42(1), 93-97.

Kinoshita, K., Ishizaki, Y., Yamamoto, H., Sonoda, M., Yonemoto, K., Kira, R., ... & Ohga, S. (2020). De novo p. G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: a case report and review of the literature. European Journal of Medical Genetics, 63(4), 103825.

Labelle-Dumais, C., Schuitema, V., Hayashi, G., Hoff, K., Gong, W., Dao, D. Q., ... & Gould, D. B. (2019). COL4A1 mutations cause neuromuscular disease with tissue-specific mechanistic heterogeneity. The American Journal of Human Genetics, 104(5), 847-860.

Li, Q. S., Meng, F. Y., Zhao, Y. H., Jin, C. L., Tian, J., & Yi, X. J. (2017). Inhibition of microRNA-214-5p promotes cell survival and extracellular matrix formation by targeting collagen type IV alpha 1 in osteoblastic MC3T3-E1 cells. Bone & Joint Research, 6(8), 464-471.

Jeanne, M., & Gould, D. B. (2017). Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations. Matrix Biology, 57, 29-44.

Durrani-Kolarik, S., Manickam, K., & Chen, B. (2017). COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis. Pediatric Neurology, 66, 100-103.

Guiraud, S., Migeon, T., Ferry, A., Chen, Z., Ouchelouche, S., Verpont, M. C., ... & Plaisier, E. (2017). HANAC Col4a1 mutation in mice leads to skeletal muscle alterations due to a primary vascular defect. The American journal of pathology, 187(3), 505-516.

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

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