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Mouse Anti-HMBS Recombinant Antibody (3E8) (CBMAB-A3952-LY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
3E8
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
HMBS (AAH00520.1, 1 a.a. ~ 361 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2a, 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
Hydroxymethylbilane Synthase
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]
Entrez Gene ID
3145
UniProt ID
P08397
Alternative Names
PBG-D; PBGD; UPS
Function
As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18936296, PubMed:19138865, PubMed:23815679).

Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assembled. In the last step of catalysis, the product, preuroporphyrinogen, is released, leaving the cofactor bound to the holodeaminase intact (PubMed:18936296).
Biological Process
Heme biosynthetic process Source: UniProtKB
Peptidyl-pyrromethane cofactor linkage Source: InterPro
Protoporphyrinogen IX biosynthetic process Source: UniProtKB-UniPathway
Cellular Location
Cytoplasm
Involvement in disease
Acute intermittent porphyria (AIP):
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
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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