Previous symbols: EPB3, AE1, DI, WD. Aliases: RTA1A, CD233, FR, SW, WR, EMPB3.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Hereditary Elliptocytosis | causative |
mechanism: SAO Band 3 Over-Association and Increased Membrane Rigidity
subtype: SAO
scoped to subtype: SAO
|
| Hereditary Spherocytosis | causative |
mechanism: Red Cell Membrane Protein Deficiency
subtype: HS Type 4 (SLC4A1/Band 3-related)
scoped to subtype: HS Type 4 (SLC4A1/Band 3-related)
|
| Renal Tubular Acidosis Distal 4 with Hemolytic Anemia | causative germline |
mechanism: SLC4A1 Anion Exchanger Dysfunction
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.