PYROXD1

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]

Description

Pyridine nucleotide-disulphide oxidoreductase domain 1

Tissue specificity

Low tissue specificity

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (21437615 - 21471250)

Ensembl ID

ENSG00000121350  (ver. 103.38)

Orthologs

Mouse Pyroxd1: ENSMUSG00000041671

UniProt

Q8WU10

neXtProt

NX_Q8WU10

Human splice variants
Mouse splice variants

Protein structure