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Mouse Anti-HIBCH Recombinant Antibody (CBFYH-1071) (CBMAB-H2014-FY)

This product is mouse antibody that recognizes HIBCH. The antibody CBFYH-1071 can be used for immunoassay techniques such as: FC, IF, WB.
See all HIBCH antibodies

Summary

Host Animal
Mouse
Specificity
Human, Dog, Monkey, Rat
Clone
CBFYH-1071
Antibody Isotype
IgG2b
Application
FC, IF, WB

Basic Information

Immunogen
Full length human recombinant protein of human HIBCH produced in HEK293T cell
Specificity
Human, Dog, Monkey, Rat
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 7.3, 1% BSA, 50% glycerol
Preservative
0.02% Sodium azide
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
3-Hydroxyisobutyryl-CoA Hydrolase
Introduction
This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
Human26275
Rat301384
Monkey713951
Dog607040
UniProt ID
Alternative Names
3-Hydroxyisobutyryl-CoA Hydrolase; 3-Hydroxyisobutyryl-Coenzyme A Hydrolase; HIB-CoA Hydrolase; HIBYL-CoA-H; EC 3.1.2.4; 3-Hydroxyisobutyryl-CoA Hydrolase, Mitochondrial; Testicular Tissue Protein Li 86; HIBYLCOAH
Function
Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.
Biological Process
Branched-chain amino acid catabolic process Source: Reactome
Valine catabolic process Source: GO_Central
Cellular Location
Mitochondrion
Involvement in disease
3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD):
An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.

Chen, J. Y., Sun, Y. R., Xiong, T., Wang, G. N., & Chang, Q. (2022). Identification of HIBCH as a Fatty Acid Metabolism-Related Biomarker in Aortic Valve Calcification Using Bioinformatics. Oxidative Medicine and Cellular Longevity, 2022.

François‐Heude, M. C., Lebigot, E., Roze, E., Warde, M. T. A., Cances, C., Damaj, L., ... & Roubertie, A. (2022). Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. European Journal of Neurology, 29(11), 3229-3242.

Marti‐Sanchez, L., Baide‐Mairena, H., Marcé‐Grau, A., Pons, R., Skouma, A., López‐Laso, E., ... & Pérez‐Dueñas, B. (2021). Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. Journal of Inherited Metabolic Disease, 44(2), 401-414.

Wang, J., Liu, Z., Xu, M., Han, X., Ren, C., Yang, X., ... & Fang, F. (2021). Cinical, metabolic, and genetic analysis and follow-up of eight patients with HIBCH mutations presenting With Leigh/Leigh-like syndrome. Frontiers in Pharmacology, 12, 605803.

D'Gama, A. M., Brucker, W. J., Zhang, T., Gubbels, C. S., Ferdinandusse, S., Shi, J., ... & Agrawal, P. B. (2020). A phenotypically severe, biochemically “silent” case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. American Journal of Medical Genetics Part A, 182(4), 780-784.

Abdenur, J. E., Sowa, M., Simon, M., Steenari, M., Skaar, J., Eftekharian, S., ... & Pitt, J. (2020). Medical nutrition therapy in patients with HIBCH and ECHS1 defects: clinical and biochemical response to low valine diet. Molecular Genetics and Metabolism Reports, 24.

Karimzadeh, P., Saberi, M., Sheidaee, K., Nourbakhsh, M., & Keramatipour, M. (2019). 3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations. Clinical Case Reports, 7(2), 375.

Shan, Y., Gao, Y., Jin, W., Fan, M., Wang, Y., Gu, Y., ... & Xu, Q. (2019). Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer. Cell Death & Disease, 10(8), 618.

Candelo, E., Cochard, L., Caicedo-Herrera, G., Granados, A. M., Gomez, J. F., Díaz-Ordoñez, L., ... & Pachajoa, H. (2019). Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia. Intractable & Rare Diseases Research, 8(3), 187-193.

Tan, H., Chen, X., Lv, W., Linpeng, S., Liang, D., & Wu, L. (2018). Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review. Journal of Human Genetics, 63(7), 851-855.

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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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