PYROXD1 gene

pyridine nucleotide-disulphide oxidoreductase domain 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Involved in cellular response to oxidative stress.

From NCBI Gene:

  • MYOPATHY, MYOFIBRILLAR, 8

From UniProt:

Myopathy, myofibrillar, 8 (MFM8): A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM8 is an autosomal recessive form, clinically characterized by slowly progressive symmetrical weakness affecting both proximal and distal muscles, with normal to moderately elevated creatine kinase. Mild facial weakness, a high palate, nasal speech, and swallowing difficulties are typical features, mild restrictive lung disease is common, and late-onset cardiac involvement may be present. [MIM:617258]

Cytogenetic Location: 12p12.1, which is the short (p) arm of chromosome 12 at position 12.1

Molecular Location: base pairs 21,437,604 to 21,471,250 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p12.1, which is the short (p) arm of chromosome 12 at position 12.1