SDHAF2 Human

Succinate Dehydrogenase Complex Assembly Factor 2 Human Recombinant
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Cat. No.
BT4499
Source
Escherichia Coli.
Synonyms
Succinate dehydrogenase assembly factor 2 mitochondrial, SDH assembly factor 2, Succinate dehydrogenase subunit 5, mitochondrial, hSDH5, SDHAF2, C11orf79, PGL2, SDH5.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 90.0% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
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Description

Overview of SDHAF2 Human

SDHAF2, encoded by the SDHAF2 gene on chromosome 11q12.2, is a 6.7 kDa mitochondrial protein composed of 65 amino acids . It facilitates the flavinylation of SDHA, a catalytic subunit of the SDH complex, by incorporating flavin adenine dinucleotide (FAD) cofactors . SDH links the tricarboxylic acid (TCA) cycle and oxidative phosphorylation, making SDHAF2 essential for energy metabolism . Mutations in SDHAF2 are linked to hereditary paraganglioma-pheochromocytoma syndrome, highlighting its role as a tumor suppressor .

Functional Role in Mitochondrial Complex II Assembly

SDHAF2 ensures SDH complex stability by:

  • Flavinylation of SDHA: Covalently attaching FAD to SDHA, a prerequisite for SDH enzymatic activity .

  • Synergy with Dicarboxylates: Small molecules like oxaloacetate reorganize SDHA’s active site, enabling FAD insertion .

  • Chaperone Function: Stabilizing SDHA to prevent aggregation or proteolysis .

Knockdown of SDHAF2 disrupts SDH assembly, reducing enzyme stability and activity .

Key Clinical Implications

ParameterDetail
Primary MutationG78R (Gly78Arg)
Associated ConditionHereditary paraganglioma-pheochromocytoma type 2
Tumor CharacteristicsCarotid (71%), vagal (17%), multifocal (91%), often asymptomatic (42%)
Pathogenic MechanismImpaired FAD binding → SDH dysfunction → succinate accumulation → HIF stabilization → tumorigenesis

SDHAF2 mutations cause neuroendocrine tumors due to pseudohypoxia signaling. Affected individuals often present with catecholamine-secreting tumors, hypertension, and neurological symptoms .

Interactions and Biochemical Pathways

SDHAF2 interacts with:

  • SDHA: Direct binding for FAD insertion .

  • Other Proteins: IMMT, SUCLG2, and SUMOylation machinery, suggesting roles beyond SDH assembly .

  • Metabolites: Dicarboxylates (e.g., oxaloacetate) act as cofactors in flavinylation .

Future Research Directions

  • Bioenergetic Signaling: Exploring SDHAF2’s role in mitochondrial stress responses and metabolic regulation .

  • Therapeutic Targets: Developing small molecules to restore SDH function in mutation carriers.

  • Extended Phenotypes: Investigating non-paraganglioma manifestations of SDHAF2 dysfunction .

Product Specs

Introduction
Succinate Dehydrogenase Complex Assembly Factor 2 (SDHAF2), also known as SDH assembly factor 2, is a protein found in the mitochondria of cells. This protein is crucial for the proper functioning of the succinate dehydrogenase complex, a key component of cellular energy production. SDHAF2 specifically facilitates the addition of a flavin adenine dinucleotide (FAD) cofactor to the SDHA subunit of the succinate dehydrogenase complex. This process is essential for the complex to function correctly. The SDHA subunit is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) in the mitochondrial electron transport chain, a process vital for energy production. Genetic defects in the SDHAF2 gene can lead to the development of hereditary paragangliomas type 2 (PGL2), also known as familial non-chromaffin paragangliomas type 2.
Description
This product consists of the human recombinant SDHAF2 protein, which has been produced in an E. coli expression system. It is a single, non-glycosylated polypeptide chain that contains 160 amino acids (specifically, amino acids 30 to 166). The protein has a molecular weight of 19 kDa. For purification and detection purposes, a 23 amino acid His-tag is fused to the N-terminus of the SDHAF2 protein. The protein has been purified using proprietary chromatographic techniques.
Physical Appearance
The product is a sterile-filtered solution that appears colorless.
Formulation
The SDHAF2 protein is supplied in a solution at a concentration of 0.5 mg/ml. The solution is buffered with 20mM Tris-HCl at a pH of 8.0. It also contains 0.2M NaCl, 30% glycerol, and 1mM DTT.
Stability
For short-term storage (up to 2-4 weeks), the product can be stored at 4°C. For extended storage, it is recommended to store the product frozen at -20°C. To ensure the product's stability during long-term storage, it is advisable to add a carrier protein, such as HSA or BSA, at a concentration of 0.1%. It's important to avoid repeated freeze-thaw cycles to maintain the integrity of the protein.
Purity
The purity of the SDHAF2 protein is determined using SDS-PAGE analysis and is guaranteed to be greater than 90.0%.
Synonyms
Succinate dehydrogenase assembly factor 2 mitochondrial, SDH assembly factor 2, Succinate dehydrogenase subunit 5, mitochondrial, hSDH5, SDHAF2, C11orf79, PGL2, SDH5.
Source
Escherichia Coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSSFRRFYR GDSPTDSQKD MIEIPLPPWQ ERTDESIETK RARLLYESRK RGMLENCILL SLFAKEHLQH MTEKQLNLYD RLINEPSNDW DIYYWATEAK PAPEIFENEV MALLRDFAKN KNKEQRLRAP DLEYLFEKPR.

Product Science Overview

Introduction

Succinate Dehydrogenase Complex Assembly Factor 2 (SDHAF2) is a crucial protein involved in the assembly and function of the succinate dehydrogenase (SDH) enzyme complex, also known as respiratory complex II. This enzyme complex plays a dual role in cellular respiration by participating in both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain (ETC) .

Structure and Function

The SDHAF2 gene provides instructions for making a protein that interacts with the SDH enzyme. The SDHAF2 protein helps a molecule called flavin adenine dinucleotide (FAD) attach to the SDH enzyme. FAD is a cofactor that is essential for the enzyme’s activity . The SDH enzyme complex consists of multiple subunits and requires a series of assembly factors, including SDHAF2, for its proper assembly and function .

Role in Cellular Respiration

SDH, also known as succinate:ubiquinone oxidoreductase, is unique in that it is involved in both the TCA cycle and the ETC. In the TCA cycle, SDH catalyzes the oxidation of succinate to fumarate. In the ETC, it transfers electrons from succinate to ubiquinone, contributing to the generation of ATP through oxidative phosphorylation .

Medical Significance

Dysfunction of the SDH enzyme complex, including defects in SDHAF2, has been linked to a variety of human diseases. These include certain types of cancer and neurodegenerative disorders. The proper assembly and function of SDH are critical for cellular energy production, and defects in this process can lead to significant metabolic disturbances .

Agricultural Importance

In addition to its medical significance, SDH has agricultural importance. Many fungicides target the SDH enzyme in plant fungal pathogens. There is ongoing research to design novel fungicides that specifically target fungal assembly factors, including SDHAF2, to improve crop protection .

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