Pyridine nucleotide-disulphide oxidoreductase domain 1

(Redirected from PYROXD1)

Pyridine nucleotide-disulphide oxidoreductase domain 1 is a protein that in humans is encoded by the PYROXD1 gene. [5]

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

Function

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121350Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041671Ensembl, 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

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