Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton

Table 1

Genes mutated in osteopetrotic patients.

Osteopetrosis; form	Genetic transmission	Gene	Mutation type	Protein
ARO	Autosomal recessive	TCIRG1	Loss of function	3 subunit V-ATPase
		CLCN7	Loss of function	Chloride channel 7
		OSTM1	Loss of function	Osteopetrosis associated transmembrane protein
		PLEKHM1	Loss of function	Pleckstrin homology domain containing family M, member I
		SNX10	Loss of function	Sorting nexin 10
		TNFSF11	Loss of function	Receptor activator for nuclear factor B ligand
		TNFRSF11A	Loss of function	Receptor activator for nuclear factor B
IRO	Autosomal recessive	CAII	Loss of function	Carbonic anhydrase II
ADO II	Autosomal dominant	CLCN7	Dominant negative	Chloride channel 7