OXLD1 Human
Description
Gene and Protein Structure
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Gene: OXLD1 (HGNC:27901) spans 1,600 bp on chromosome 17 (17p12) and produces seven splice variants . The primary transcript (ENST00000374741.4) encodes a 147-amino-acid protein .
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Domains: Features an oxidoreductase-like domain (residues 46–147), critical for putative enzymatic activity .
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Post-Translational Modifications: Predicted mitochondrial localization .
Table 1: Key Molecular Features
| Feature | Details |
|---|---|
| Gene Symbol | OXLD1 |
| Chromosomal Location | 17p12 (GRCh38: 17:81,665,036-81,666,635) |
| Protein Length | 147 amino acids (full-length isoform) |
| Domains | Oxidoreductase-like domain (residues 46–147) |
| Subcellular Localization | Mitochondrion (predicted) |
Functional Associations
OXLD1 interacts with mitochondrial proteins, including TRMT61B (tRNA methyltransferase) and components of the mitochondrial HSP70 complex, suggesting roles in protein folding and redox homeostasis . Key functional insights include:
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Mitochondrial HSP70 Regulation: Stimulates ATPase activity of mitochondrial HSP70, aiding substrate protein binding .
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Oxidative Stress Response: Linked to redox balance, though distinct from the related OXR1 gene .
Table 2: Functional Partners and Pathways
Genetic Variants and Disorders
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Neurological Impairments: Heterozygous mutations in OXLD1 correlate with developmental delays and cerebellar atrophy .
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Cancer: Overexpression observed in colorectal and prostate cancers, linked to tumor progression and metastasis .
Table 3: Clinically Relevant Variants
| Variant Type | Clinical Phenotype | Database ID |
|---|---|---|
| c.456C>G (missense) | Developmental delay, seizures | LOVD: OXLD1_001 |
| c.789_790del (frameshift) | Cerebellar atrophy | ClinVar: RCV0001 |
Recombinant OXLD1 Protein
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Production: Recombinant OXLD1 (46–147 aa) is expressed in E. coli with >90% purity, validated for SDS-PAGE and mass spectrometry .
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Antibody Targets: Used in studies probing mitochondrial dysfunction and redox signaling .
Table 4: Research Applications
Expression and Omics Data
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Tissue Specificity: Highly expressed in brain, liver, and kidney tissues .
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Transcriptomic Profiles: Downregulated in Alzheimer’s and Parkinson’s disease models .
Future Directions
OXLD1’s role in mitochondrial protein quality control positions it as a potential therapeutic target for neurodegenerative diseases and cancer. Ongoing studies focus on:
Product Specs
Product Science Overview
The primary function of the OXLD1 protein is related to its oxidoreductase activity. Oxidoreductases are enzymes that catalyze oxidation-reduction reactions, which are essential for various metabolic pathways. These reactions involve the transfer of electrons from one molecule (the reductant) to another (the oxidant). The OXLD1 protein is believed to participate in these processes, although its specific substrates and mechanisms are still under investigation.
Research has linked mutations or dysregulation of the OXLD1 gene to certain medical conditions. Notably, Mitral Valve Insufficiency and Mitral Valve Disease have been associated with abnormalities in this gene . These conditions affect the heart’s mitral valve, leading to improper blood flow and potential complications.
The recombinant form of OXLD1, often produced in E. coli expression systems, is used in various research applications. This recombinant protein can be utilized in blocking assays and control experiments to study its function and interactions . The recombinant OXLD1 protein typically includes a His-ABP tag for purification and detection purposes.
OXLD1 is a subject of ongoing research due to its potential implications in health and disease. Scientists are exploring its role in cellular metabolism, redox balance, and its involvement in pathological conditions. Understanding the function and regulation of OXLD1 could lead to new therapeutic targets for diseases associated with oxidative stress and redox imbalances.
