PYROXD1
Identifiers
AliasesPYROXD1, pyridine nucleotide-disulphide oxidoreductase domain 1, MFM8
External IDsOMIM: 617220 MGI: 2676395 HomoloGene: 11758 GeneCards: PYROXD1
Orthologs
SpeciesHumanMouse
Entrez

79912

232491

Ensembl

ENSG00000121350

ENSMUSG00000041671

UniProt

Q8WU10

Q3TMV7

RefSeq (mRNA)

NM_024854
NM_001350912
NM_001350913

NM_183165

RefSeq (protein)

NP_079130
NP_001337841
NP_001337842

NP_898988

Location (UCSC)Chr 12: 21.44 – 21.47 MbChr 6: 142.29 – 142.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 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].

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000121350 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041671 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Pyridine nucleotide-disulphide oxidoreductase domain 1". Retrieved 2018-05-16.

Further reading


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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