Mouse Anti-HMBS Recombinant Antibody (CBFYH-1490) (CBMAB-H2447-FY)

Name: Mouse Anti-HMBS Recombinant Antibody (CBFYH-1490)
SKU: CBMAB-H2447-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYH-1490

Application

Immunogen

Full length human recombinant protein of human HMBS 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.

More Infomation

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.

Entrez Gene ID

3145

UniProt ID

P08397

Alternative Names

Hydroxymethylbilane Synthase; Porphyria, Acute; Chester Type; Pre-Uroporphyrinogen Synthase; Uroporphyrinogen I Synthase; Porphobilinogen Deaminase; EC 2.5.1.6

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.

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Antibody Pairs

HMBS Matched Antibody Pair (547) (CAT#: APMAB-547LY)

HMBS Matched Antibody Pair (548) (CAT#: APMAB-548LY)

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HMBS Matched Antibody Pair (548) (CAT#: APMAB-548LY)

Mouse Anti-HMBS (AA 1-361) Recombinant Antibody (CBFYH-1489) (CAT#: CBMAB-H2446-FY)

Isotype control

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

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