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. 2019 Sep 11;20(18):4502. doi: 10.3390/ijms20184502

Table 1.

List of genes mutated in osteopetrotic patients.

Osteopetrosis Genetic Transmission Gene Mutation Protein
ARO Autosomal recessive osteopetrosis TCIRG1 α3 subunit V-H+ATPase
CLCN7 Chloride channel 7
OSTM1 Osteopetrosis associated transmembrane protein
PLEKHM1 Pleckstrin homology domain containing family M, member I
SNX10 Sorting nexin 10
TNFSF11 Receptor activator for nuclear factor κB ligand
TNFRSF11A Receptor activator for nuclear factor κB
IRO Autosomal recessive osteopetrosis CAII Carbonic anhydrase
ADO Autosomal dominant osteopetrosis CLCN7 Chloride channel 7