PYROXD1
Gene Information
- Official Symbol: PYROXD1
- Official Name: pyridine nucleotide-disulphide oxidoreductase domain 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 79912
- UniProt: Q8WU10
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: Involved in cellular response to oxidative stress. {ECO:0000269|PubMed:27745833}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 107
- Expression level (log2 read counts): 4.76