Pyridine nucleotide-disulphide oxidoreductase domain 1 is a
protein that in humans is encoded by the PYROXD1
gene.
[5]
Function
This gene encodes a nuclear-cytoplasmic
pyridinenucleotide-
disulphidereductase (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].