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- Table of Contents
Facts about Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1.
Human | |
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Gene Name: | PYROXD1 |
Uniprot: | Q8WU10 |
Entrez: | 79912 |
Belongs to: |
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class-I pyridine nucleotide-disulfide oxidoreductase family |
DKFZp762G094; EC 1.8.1; EC 1.8.1.-; FLJ22028; pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; pyridine nucleotide-disulphide oxidoreductase domain 1
Mass (kDA):
55.793 kDA
Human | |
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Location: | 12p12.1 |
Sequence: | 12; NC_000012.12 (21437630..21471252) |
Nucleus. Cytoplasm. Cytoplasm, myofibril, sarcomere.
PMID: 27745833 by O'Grady G.L., et al. Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization.
PMID: 30345904 by Saha M., et al. The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.