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Mouse Anti-HLCS Recombinant Antibody (CBFYH-1476) (CBMAB-H2430-FY)

This product is mouse antibody that recognizes HLCS. The antibody CBFYH-1476 can be used for immunoassay techniques such as: WB, FC, IHC, IHC-P.
See all HLCS antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYH-1476
Antibody Isotype
IgG1
Application
WB, FC, IHC, IHC-P

Basic Information

Immunogen
Full length human recombinant protein of human HLCS produced in HEK293T cell
Specificity
Human
Antibody Isotype
IgG1
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
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
Holocarboxylase Synthetase
Introduction
This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Entrez Gene ID
3141
UniProt ID
P50747
Alternative Names
Holocarboxylase Synthetase; Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase); Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase); Biotin Apo-Protein Ligase; Holocarboxylase Synthetase (Biotin-[Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)] Ligase); Biotin--[Methylmalonyl-CoA-Carboxytransferase] Ligase
Function
Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.
Biological Process
Biotin metabolic process Source: Reactome
Histone biotinylation Source: UniProtKB
Histone modification Source: UniProtKB
Protein biotinylation Source: UniProtKB
Response to biotin Source: UniProtKB
Cellular Location
Cytoplasm; Mitochondrion
Involvement in disease
Holocarboxylase synthetase deficiency (HLCS deficiency):
A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin.

Ling, S., Qiu, W., Zhang, H., Liang, L., Lu, D., Chen, T., ... & Han, L. (2023). Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Orphanet Journal of Rare Diseases, 18(1), 1-7.

Li, K. Y., Tang, J. P., Jiang, Y. L., Yue, S. Z., Zhou, B., Wen, R., ... & Wei, Z. (2023). Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study. Zhongguo Dang dai er ke za zhi= Chinese Journal of Contemporary Pediatrics, 25(4), 401-407.

Sadri, M., Wang, H., Kuroishi, T., Li, Y., & Zempleni, J. (2022). Holocarboxylase synthetase knockout is embryonic lethal in mice. PloS one, 17(4), e0265539.

Meguro, M., Wada, Y., Kisou, Y., Sugawara, C., Akimoto, Y., & Kure, S. (2022). Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency. Molecular Genetics and Metabolism Reports, 33, 100923.

Siritutsoontorn, S., Sukjoi, W., Polyak, S. W., Akekawatchai, C., & Jitrapakdee, S. (2022). Differential growth inhibition, cell cycle arrest and apoptosis of MCF-7 and MDA-MB-231 cells to holocarboxylase synthetase suppression. Biochemical and Biophysical Research Communications, 593, 108-115.

Cadieux‐Dion, M., Gannon, J., Newell, B., Nopper, A. J., Jenkins, J., Heese, B., & Saunders, C. (2021). Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings. Pediatric dermatology, 38(3), 655-658.

Wu, H. R., Chen, K. J., Hsiao, H. P., & Chao, M. C. (2020). Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review. Journal of Pediatric Endocrinology and Metabolism, 33(11), 1481-1486.

Sukjoi, W., Siritutsoontorn, S., Chansongkrow, P., Waiwitlikhit, S., Polyak, S. W., Warnnissorn, M., ... & Jitrapakdee, S. (2020). Overexpression of holocarboxylase synthetase predicts lymph node metastasis and unfavorable prognosis in breast cancer. Anticancer Research, 40(8), 4557-4565.

Zheng, Z., Yuan, G., Zheng, M., Lin, Y., Zheng, F., Jiang, M., ... & Fu, Q. (2020). Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report. BMC Medical Genetics, 21(1), 1-6.

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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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