PYROXD1: Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1
A gene encoding a putative oxidoreductase involved in redox homeostasis and associated with myopathy.
Gene Information Card
| Symbol | PYROXD1 |
|---|---|
| Full Name | Pyridine Nucleotide-Disulphide Oxidoreductase Domain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 79912 ncbi.nlm.nih.gov/gene/79912 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8WU10 |
| OMIM ID | 617220 |
| HGNC ID | 26162 |
| Aliases | FLJ22662, MGC13170, PP591 |
Description
PYROXD1 encodes a putative pyridine nucleotide-disulphide oxidoreductase domain-containing protein. It is predicted to be involved in redox regulation, possibly protecting cells from oxidative stress. Mutations in this gene are associated with autosomal recessive myopathy, characterized by muscle weakness and structural abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, myofibrillar, 9, with early respiratory failure (MFM9) | Loss-of-function mutations in PYROXD1 lead to impaired redox homeostasis, resulting in protein aggregation and muscle fiber degeneration. | OMIM #617220; ClinVar; PMID: 28132693 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.3 | Medium |
| Heart | 8.1 | Low |
| Liver | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.7 | Hepatocellular carcinoma |
| K562 | 4.5 | Leukemia |
| A549 | 5.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.464G>A (p.Arg155His) | Missense | Rare | Loss of function; reduced protein stability |
| c.910C>T (p.Arg304Trp) | Missense | Rare | Loss of function; impaired oxidoreductase activity |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; no protein production |
Mutation functional classification
Loss of Function (LOF)
Most reported PYROXD1 mutations are loss-of-function, leading to reduced or absent protein activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • NADP binding (GO:0050661) |
| • cytoplasm (GO:0005737) |
Pathways
• Redox homeostasis (Reactome: R-HSA-5663202)
Protein Summary
The PYROXD1 protein (UniProt Q8WU10) is a 361-amino acid putative oxidoreductase containing a pyridine nucleotide-disulphide oxidoreductase domain. It is predicted to localize to the cytoplasm and may function in redox regulation, particularly in skeletal muscle. Structural studies suggest it binds NADP and catalyzes disulphide bond reduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PYROXD1 Knockout HEK293 Cell Line | EDJ-KQ14221 | Human | 79912 | Details Get a Quote |
| PYROXD1 Knockout HCT 116 Cell Line | EDJ-KQ45448 | Human | 79912 | Details Get a Quote |
| PYROXD1 Knockout HeLa Cell Line | EDJ-KQ45449 | Human | 79912 | Details Get a Quote |
| PYROXD1 Knockout A-549 Cell Line | EDJ-KQ65764 | Human | 79912 | Details Get a Quote |
