ADGRG6

Molecular characteristics

ADGRG6 disease is very rare – there are less than 10 reported cases in the literature.

ADGRG6 disease is recessive – both copies of the ADGRG6 gene needs to be defective (e.g. both copies have to have a mutation). Like with many other recessive diseases, the mutations in ADGRG6 lead to a loss of function, so that the protein that the gene encodes, the ADGRG6 protein is not made by the gene or if it is made it cannot work properly.