Table 1.
Bartter syndrome classification, associated genes and encoded proteins. All the UniProtein codes are referred to Homo sapiens. AR: Autosomal Recessive; DR: Digenic Recessive; and XLR: X-Linked Recessive.
| Bartter Subtype | OMIM | Inheritance | Causative Gene | Related Protein | UniProt Code |
|---|---|---|---|---|---|
| Type 1 | 601,678 | AR | SLC12A1 | NKCC2 (Solute carrier family 12 member 1) |
Q13621 |
| Type 2 | 600,359 | AR | KCNJ1 | ROMK (ATP-sensitive inward rectifier potassium channel 1) |
P48048 |
| Type 3 | 607,364 | AR | CLCNKB | CLCNKB (Chloride channel protein ClC-Kb) |
P51801 |
| Type 4a | 602,522 | AR | BSND | BSND (Barttin) |
Q8WZ55 |
| Type 4b | 613,090 | AR DR |
CLCNKB +
CLCNKA |
CLCNKB (Chloride channel protein ClC-Kb) + CLCNKA (Chloride channel protein ClC-Ka) |
P51801 + P51800 |
| Type 5 | 300,470 | XLR | MAGED2 | MAGED2 (Melanoma-associated antigen D2) |
Q9UNF1 |