Mutations found in known patients are either homozygous or compound heterozygous loss-of-function mutations. Homozygous mutations happen when both copies of the same gene are mutated. Compound heterozygous loss-of-function mutations happen when both copies of the same gene are mutated but in different ways which results in the loss-of-function of the protein encoded in those genes. Wang et al. (2019) suggest that OXR1 plays a role in lysosomal function which are essential organelles in cells. Bjørås et al. (2022) recent research suggests that OXR1 participates in human brain development.
OXR1