Aliases for PYROXD1 Gene
External Ids for PYROXD1 Gene
Previous GeneCards Identifiers for PYROXD1 Gene
This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]
GeneCards Summary for PYROXD1 Gene
PYROXD1 (Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1) is a Protein Coding gene. Diseases associated with PYROXD1 include Myopathy, Myofibrillar, 8 and Myopathy. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is AIFM1.
UniProtKB/Swiss-Prot Summary for PYROXD1 Gene
Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response (PubMed:27745833). Required for normal sarcomere structure and muscle fiber integrity (By similarity).