NDUFS6 Human

Histidine NADH Dehydrogenase Fe-S Protein 6 Human Recombinant

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Cat. No.

BT13532

Source

Escherichia Coli.

Synonyms

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6 13kDa (NADH-Coenzyme Q Reductase), Complex I Mitochondrial Respiratory Chain 13-KD Subunit, NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 6 Mitochondrial, NADH: Ubiquinone Oxidoreductase NDUFS6 Subunit, NADH-Ubiquinone Oxidoreductase 13 KDa-A Subunit, Complex I-13kD-A, CI13KDA.

Appearance

Sterile Filtered clear solution.

Purity

Greater than 90% as determined by SDS-PAGE.

Usage

THE BioTeks 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

Gene Structure and Function

NDUFS6 is located on human chromosome 5 (5p15.33) and encodes a 13 kDa accessory subunit of mitochondrial complex I. It belongs to the iron-sulfur protein (IP) fraction of CI, which facilitates electron transfer from NADH to ubiquinone.

Characteristic	Detail
Gene Symbol	NDUFS6
Chromosomal Location	5p15.33
Protein Length	120 amino acids (AA) (recombinant form: AA 28–124)
Molecular Mass	~13 kDa
Function	Stabilizes CI assembly; critical for electron transport and ATP synthesis

Key Features:

Iron-Sulfur Center: Not directly involved in electron transfer but stabilizes CI structure .
Tissue-Specific Expression: Higher expression in heart and muscle due to their high energy demands .

Clinical Significance and Associated Disorders

Mutations in NDUFS6 disrupt CI activity, leading to impaired oxidative phosphorylation and mitochondrial disorders. These mutations are typically autosomal recessive.

Associated Diseases

Disease	Symptoms	Inheritance
Mitochondrial Complex I Deficiency (MCID)	Neonatal lactic acidosis, cardiomyopathy, Leigh syndrome, neurodegeneration	Autosomal recessive
Leigh Syndrome	Subacute necrotizing encephalomyelopathy, developmental regression	Autosomal recessive
Charcot-Marie-Tooth-like Neuropathy	Axonal neuropathy, optic atrophy, intellectual disability	Autosomal recessive
Fatal Neonatal Lactic Acidemia	Rapid multi-system failure, death within weeks	Autosomal recessive

Mutation Types and Outcomes

Mutation Type	Effect	Example
Splice-Site Mutations	Disrupted mRNA splicing; loss of protein expression	c.309+5G>A (homozygous)
Missense Mutations	Cysteine-to-Tyrosine substitution (p.C115F/Y); protein instability	c.344G>A (p.C115Y)
Large Deletions	Complete loss of protein; severe CI deficiency	Exon 4 deletion

Notable Cases:

Homozygous c.309+5G>A: Milder phenotype with neuropathy and optic atrophy, attributed to residual protein in non-cardiac tissues .
c.344G>A (p.C115Y): Fatal neonatal lactic acidosis and cardiomyopathy .

**Biochemical Impact of NDUFS6 Deficiency**

CI Activity Loss: >90% reduction in complex I activity in patient-derived cells .
Proteomic Changes: Loss of NDUFS6 correlates with decreased levels of NDUFA12, NDUFS4, and NDUFV1, indicating disrupted CI assembly .
ROS and Metabolites: No significant reactive oxygen species (ROS) accumulation; elevated hydroxyacylcarnitine in cardiomyopathy .

Tissue-Specific Splicing

In a Ndufs6 gene-trap mouse model:

Tissue	NDUFS6 Expression	CI Deficiency Severity	Outcome
Heart	Undetectable	Severe	Cardiac failure, death by 4–8 mo
Skeletal Muscle	Partial (spliced mRNA)	Mild	Survived with muscle weakness
Liver/Brain	Residual (spliced mRNA)	Moderate	No overt organ dysfunction

Sex Differences: Male mice showed earlier cardiac failure and higher mortality rates compared to females, possibly due to hormonal influences .

Mouse Models

Ndufs6(gt/gt) Mice:
- Cardiac Phenotype: Biventricular enlargement, fibrosis, reduced ATP synthesis .
- Use in Research: Testing therapeutic strategies (e.g., ETC bypass agents, mitochondrial biogenesis enhancers) .

Recombinant NDUFS6 Protein

Source: E. coli (non-glycosylated, 120 AA) .
Applications: In vitro studies of CI assembly and function .

Diagnostic and Research Tools

Tool	Application	Sources
Homozygosity Mapping	Identifying conserved haplotypes in recessive disorders
Real-Time RT-PCR	Quantifying NDUFS6 mRNA levels in patient cells
Proteomic Profiling	Detecting CI subunit loss (e.g., NDUFA12, NDUFS4)

Product Specs

Introduction

NADH Dehydrogenase Fe-S Protein 6 (NDUFS6), a subunit of the NADH: ubiquinone oxidoreductase (complex I), plays a crucial role in the mitochondrial electron transport chain. As part of the first enzyme complex, it facilitates electron transfer from NADH. NDUFS6 is one of seven subunits within the iron-sulfur protein segment. Genetic alterations affecting NDUFS6 can lead to mitochondrial complex I deficiency, a disorder associated with a wide range of clinical manifestations, including neurodegenerative diseases in adults and severe illnesses in newborns.

Description

This product encompasses various synonyms for NADH Dehydrogenase Fe-S Protein 6, including NADH Dehydrogenase (Ubiquinone) Fe-S Protein 6 13kDa, NADH-Coenzyme Q Reductase, Complex I Mitochondrial Respiratory Chain 13-KD Subunit, NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 6 Mitochondrial, NADH: Ubiquinone Oxidoreductase NDUFS6 Subunit, NADH-Ubiquinone Oxidoreductase 13 KDa-A Subunit, Complex I-13kD-A, and CI13KDA.

Physical Appearance

The product appears as a clear solution that has undergone sterile filtration.

Formulation

The NDUFS6 solution is provided at a concentration of 0.25mg/ml and is formulated in a buffer containing 20mM Tris-HCl (pH 8.0), 0.15M NaCl, 1mM DTT, and 30% glycerol.

Stability

For short-term storage (up to 2-4 weeks), the product should be kept at 4°C. For extended storage, it is recommended to freeze the product at -20°C. Adding a carrier protein (0.1% HSA or BSA) is advisable for long-term storage. Repeated freezing and thawing should be avoided.

Purity

The purity of the NDUFS6 protein is greater than 90%, as determined by SDS-PAGE analysis.

Synonyms

Source

Escherichia Coli.

Amino Acid Sequence

MGSSHHHHHH SSGLVPRGSH MGSFGVRVSP TGEKVTHTGQ VYDDKDYRRI RFVGRQKEVN ENFAIDLIAE QPVSEVETRV IACDGGGGAL GHPKVYINLD KETKTGTCGY CGLQFRQHHH

Q&A

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6) is a nuclear-encoded component of mitochondrial Complex I, with emerging roles in neurological and metabolic disorders. Below are structured FAQs addressing key research considerations, methodologies, and challenges in studying this protein, synthesized from peer-reviewed findings and experimental frameworks.

Advanced Research Challenges

How to resolve contradictory phenotypic data in NDUFS6-related disorders?

A cohort study revealed axonal Charcot-Marie-Tooth (CMT) and Leigh syndrome phenotypes from the same homozygous variant (c.309+5G>A). To address this:

Factor	Analytical Approach	Example from Literature
Alternative splicing	Long-read RNA sequencing (Iso-Seq)	Identified exon skipping and cryptic sites
Genetic modifiers	Whole-exome sequencing of phenotypic outliers	Excluded secondary variants in POLG or GDAP1
Environmental cues	Metabolomic profiling under hypoxia vs. normoxia	Linked lactate/pyruvate ratios to clinical severity

What systems biology models integrate NDUFS6 dysfunction with metabolic networks?

Constraint-based metabolic modeling (CBM) frameworks:

Reconstruction: Curate reactions involving NDUFS6 using Recon3D or HMR2.0 databases.
Flux balance analysis: Simulate ATP yield under varying NADH/ubiquinone ratios .
Phenotypic validation: Compare in silico predictions with patient-derived fibroblast OCR data.

Key equation:

\text{Maximize } Z = \sum c_i v_i \text{ subject to } S \cdot v = 0 \text{ and } \alpha \leq v \leq \beta

Where $v_i$ represents reaction fluxes and $S$ the stoichiometric matrix .

How to design functional studies for splice variants like c.309+5G>A?

Stepwise protocol:
- Minigene assays: Clone genomic regions spanning exon 3 into pSpliceExpress vectors.
- Flow cytometry: Sort HEK293T cells transfected with wild-type/mutant constructs.
- Mass spectrometry: Quantify truncated NDUFS6 peptides using targeted PRM assays .

Critical controls:

Include antisense oligonucleotides (AONs) to restore canonical splicing.
Validate findings in induced pluripotent stem cell (iPSC)-derived neurons.

Product Science Overview

Introduction

Histidine NADH Dehydrogenase Fe-S Protein 6, also known as NDUFS6, is a subunit of Complex I. Complex I plays a crucial role in cellular respiration, facilitating the transfer of electrons from NADH to ubiquinone. This process is essential for the generation of ATP, the primary energy currency of the cell.

Structure and Function

NDUFS6 is an iron-sulfur (Fe-S) protein, which means it contains iron-sulfur clusters that are vital for its function. These clusters facilitate the transfer of electrons within the protein complex. The human recombinant form of NDUFS6 is produced using recombinant DNA technology, which allows for the expression of the protein in a host organism, typically E. coli, for research and therapeutic purposes.

Preparation Methods

The preparation of human recombinant NDUFS6 involves several steps:

Gene Cloning: The gene encoding NDUFS6 is cloned into an expression vector.
Transformation: The vector is introduced into a host organism, such as E. coli.
Expression: The host organism is cultured under conditions that induce the expression of the recombinant protein.
Purification: The protein is purified using techniques such as affinity chromatography, which exploits the histidine tag attached to the protein for easy isolation.

Chemical Reactions and Analysis

NDUFS6 participates in redox reactions within Complex I. The iron-sulfur clusters in NDUFS6 undergo oxidation and reduction, facilitating the transfer of electrons from NADH to ubiquinone. This electron transfer is coupled with the translocation of protons across the mitochondrial membrane, contributing to the proton gradient used to produce ATP.

Significance in Research and Medicine

Research on NDUFS6 and other components of Complex I is crucial for understanding mitochondrial diseases and developing potential treatments. Mutations in the NDUFS6 gene can lead to mitochondrial dysfunction, which is associated with various neurodegenerative diseases and metabolic disorders.

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NDUFS6 Human

Description

Gene Structure and Function

Key Features:

Clinical Significance and Associated Disorders

Associated Diseases

Mutation Types and Outcomes

Notable Cases:

**Biochemical Impact of NDUFS6 Deficiency**

Tissue-Specific Splicing

Mouse Models

Recombinant NDUFS6 Protein

Diagnostic and Research Tools

Product Specs

Q&A

Advanced Research Challenges

How to resolve contradictory phenotypic data in NDUFS6-related disorders?

What systems biology models integrate NDUFS6 dysfunction with metabolic networks?

Key equation:

How to design functional studies for splice variants like c.309+5G>A?

Critical controls:

Product Science Overview

Quick Inquiry

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Service