PYROXD1 Proteins

Protein Information

The PYROXD1 gene encodes the protein pyridine nucleotide-disulphide oxidoreductase domain 1, which has a significant role in mitochondrial function and cellular redox homeostasis. This gene is involved in maintaining the balance of oxidative stress within cells and is crucial for the redox regulation of cellular components, impacting processes like energy metabolism and apoptosis. Mutations in PYROXD1 have been associated with early-onset myopathy, indicating its importance in muscle development and maintenance. The protein encoded by PYROXD1 is part of the oxidoreductase enzyme family that facilitates electron transfer, contributing to cellular defense against oxidative damage. Recent studies have linked PYROXD1 to various neuromuscular disorders, where disruptions in its function affect muscle fiber alignment and force production. Understanding its role in redox biology is crucial for developing therapeutic strategies to combat muscle pathologies and redox-related diseases.

Synonyms

FLJ22028; pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; pyridine nucleotide-disulphide oxidoreductase domain 1; PYROXD1