NXN/NRX

Function

Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A) (By similarity).

Involvement in disease

Robinow 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the nucleoredoxin family.

Cellular localization

• Cytoplasm
• Cytosol
• Nucleus

Alternative names

• Nucleoredoxin
• NRX
• NXN

Database links

• entrezGene:64359
• omim:612895
• swissprot:Q6DKJ4

Target type

Proteins

Molecular weight

48392Da