OXR1

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Description

The OXR1 (oxidation resistance 1) is a protein-coding gene located on chromosome 8.

Oxidation resistance protein 1 is a protein encoded by the OXR1 gene in humans. Its loss leads to a decline in the retromer complex, a cellular machinery involved in recycling proteins.

OXR1 may play a role in protecting cells from oxidative damage.

OXR1 is also known as CHEGDD, Nbla00307, TLDC3.

Associated Diseases

• Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay