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HMBS Matched Antibody Pair (547) (APMAB-547LY)

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Specifications

ApplIcation
Sandwich ELISA
Specificity
Human
Capture Antibody
Rabbit anti-HMBS polyclonal antibody, 100 ug
Detection Antibody
Anti-HMBS Mouse monoclonal, IgG2a antibody, 20 ug
Dilutions
10 ng/ml-100 ng/ml
Format
Liquid
Storage
Aliquot and store at -20°Cor -80°C. Avoid freeze-thaw cycles.
Introduction
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Alternative Names
Hydroxymethylbilane Synthase; Porphyria, Acute; Chester Type; Pre-Uroporphyrinogen Synthase; Uroporphyrinogen I Synthase; Porphobilinogen Deaminase; EC 2.5.1.61;
Entrez Gene ID
UniProt ID
More Infomation

Molina, L., Zhu, J., Trépo, E., Bayard, Q., Amaddeo, G., Le Bail, B., ... & Letouzé, E. (2022). Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma. Journal of hepatology, 77(4), 1038-1046.

Christie, M. S., Laitaoja, M., Aarsand, A. K., Kallio, J. P., & Bustad, H. J. (2022). Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function. FEBS Open bio, 12(12), 2136-2146.

Fontanellas, A., & Avila, M. A. (2022). Hydroxymethylbilane synthase (aka porphobilinogen deaminase): A novel metabolic tumor suppressor gene in hepatocellular carcinoma. Journal of Hepatology, 77(4), 912-914.

Zhang, Y., Xiao, H., Xiong, Q., Wu, C., & Li, P. (2021). Two novel hydroxymethylbilane synthase splicing mutations predispose to acute intermittent porphyria. International Journal of Molecular Sciences, 22(20), 11008.

Wang, Y., Zhang, J., Patrick, K., Li, M., Gong, J., Xu, B., ... & Wang, C. (2020). Hydroxymethylbilane synthase (HMBS) gene-based endogenous internal control for avian species. AMB Express, 10(1), 1-9.

Berger, S., Stattmann, M., Cicvaric, A., Monje, F. J., Coiro, P., Hotka, M., ... & Pollak, D. D. (2020). Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria. Acta Neuropathologica Communications, 8(1), 1-17.

Chakrabarty, B., Das, D., Bung, N., Roy, A., & Bulusu, G. (2020). Network analysis of hydroxymethylbilane synthase dynamics. Journal of Molecular Graphics and Modelling, 99, 107641.

Chen, B., Solis‐Villa, C., Erwin, A. L., Balwani, M., Nazarenko, I., Phillips, J. D., ... & Yasuda, M. (2019). Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Journal of inherited metabolic disease, 42(1), 186-194.

Bung, N., Roy, A., Priyakumar, U. D., & Bulusu, G. (2019). Computational modeling of the catalytic mechanism of hydroxymethylbilane synthase. Physical Chemistry Chemical Physics, 21(15), 7932-7940.

Ren, Y., Xu, L. X., Liu, Y. F., Xiang, C. Y., Gao, F., Wang, Y., ... & Yang, J. (2018). A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. Medicine, 97(37).

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

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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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