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Mouse Anti-ECHS1 Recombinant Antibody (3C6) (CBMAB-A2430-LY)

The product is antibody recognizes ECHS1. The antibody 3C6 immunoassay techniques such as: sELISA, ELISA.
See all ECHS1 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
3C6
Antibody Isotype
IgG1, κ
Application
sELISA, ELISA

Basic Information

Immunogen
ECHS1 (AAH08906, 13 a.a. ~ 290 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG1, 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
ECHS1
Introduction
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq]
Entrez Gene ID
1892
UniProt ID
P30084
Alternative Names
SCEH
Research Area
Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate.
Biological Process
Branched-chain amino acid catabolic process Source: Reactome
Fatty acid beta-oxidation Source: UniProtKB
Cellular Location
Mitochondrion matrix
Involvement in disease
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D):
A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid.

Pata, S., Flores-Rojas, K., Gil, A., López-Laso, E., Marti-Sánchez, L., Baide-Mairena, H., ... & Gil-Campos, M. (2022). Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency. Orphanet Journal of Rare Diseases, 17(1), 1-10.

Muntean, C., Tripon, F., Bogliș, A., & Bănescu, C. (2022). Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review. International Journal of Environmental Research and Public Health, 19(4), 2088.

Cai, K., Wang, F., Lu, J. Q., Shen, A. N., Zhao, S. M., Zang, W. D., ... & Zhao, J. Y. (2022). Nicotinamide mononucleotide alleviates cardiomyopathy phenotypes caused by short-chain enoyl-CoA hydratase 1 deficiency. Basic to Translational Science, 7(4), 348-362.

Yang, H., & Yu, D. (2020). Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency: two case reports and the review of the literature. BMC pediatrics, 20(1), 1-10.

Masnada, S., Parazzini, C., Bini, P., Barbarini, M., Alberti, L., Valente, M., ... & Tonduti, D. (2020). Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency. European Journal of Paediatric Neurology, 28, 151-158.

Fitzsimons, P. E., Alston, C. L., Bonnen, P. E., Hughes, J., Crushell, E., Geraghty, M. T., ... & Mayne, P. D. (2018). Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency. American Journal of Medical Genetics Part A, 176(5), 1115-1127.

Carlston, C. M., Ferdinandusse, S., Hobert, J. A., Mao, R., & Longo, N. (2018). Extrapolation of variant phase in mitochondrial short-chain Enoyl-CoA Hydratase (ECHS1) deficiency. In JIMD Reports, Volume 43 (pp. 103-109). Springer, Berlin, Heidelberg.

Sharpe, A. J., & McKenzie, M. (2018). Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Cells, 7(6), 46.

Campbell, N. V., Weitzenkamp, D. A., Campbell, I. L., Schmidt, R. F., Hicks, C., Morgan, M. J., ... & Tentler, J. J. (2018). “Omics” data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy. BMC Medical Genomics, 11(1), 1-30.

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

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