Table 1.
Inherited Distal RTA | Gene | Mapping | Protein Encoded |
---|---|---|---|
Autosomal dominant | SLC4A1 | Chromosome 17q21-q22 | AE 1 exchanger |
Autosomal recessive (with deafness) | ATP6V1B1 | Chromosome 2q13 | B1-subunit of H+-ATPase |
Autosomal recessive (with preserved hearing) | ATP6V0A4 | Chromosome 7 q33-q34 | a4 isoform subunit of H+-ATPase |