Entity Details

Primary name NXN
Entity type gene
Source Source Link

Details

PrimaryID64359
RefseqGene
SymbolNXN
Namenucleoredoxin
Chromosome17
Location17p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-02-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNXN_HUMAN

GO terms

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GOName
GO:0001701 in utero embryonic development
GO:0004791 thioredoxin-disulfide reductase activity
GO:0005634 nucleus
GO:0005829 cytosol
GO:0016055 Wnt signaling pathway
GO:0030154 cell differentiation
GO:0030178 negative regulation of Wnt signaling pathway
GO:0031397 negative regulation of protein ubiquitination
GO:0047134 protein-disulfide reductase (NAD(P)) activity
GO:0072359 circulatory system development

Diseases

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Disease IDSourceNameDescription
618529 OMIMRobinow syndrome, autosomal recessive 2 (RRS2)A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. The disease is caused by variants affecting the gene represented in this entry.