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SLC4A1 - solute carrier family 4 member 1 (Diego blood group)
- Synonym(s) : CD233, FR, Froese blood group, RTA1A, SW, Swann blood group, WR, Wright blood group
- Previous symbols and names : 'solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)', AE1, DI, Diego blood group, EPB3, Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), WD, Waldner blood group, erythrocyte membrane protein band 3, solute carrier family 4 (anion exchanger), member 1, solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
- Type : gene with protein product
- Chromosomal location : 17q21.31
- OMIM: 109270
- HGNC: 11027
- UniProtKB: P02730
- Genatlas: SLC4A1
- GenCC: SLC4A1
- Ensembl: ENSG00000004939
- IUPHAR-DB: 904
- Reactome: P02730
- LOVD: SLC4A1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant distal renal tubular acidosis
ORPHA:93608 
- Disease-causing germline mutation(s) in Dehydrated hereditary stomatocytosis
ORPHA:3202 - Disease-causing germline mutation(s) in Distal renal tubular acidosis with anemia
ORPHA:93610 - Disease-causing germline mutation(s) in Hereditary cryohydrocytosis with normal stomatin
ORPHA:398088 - Disease-causing germline mutation(s) in Hereditary spherocytosis
ORPHA:822 - Disease-causing germline mutation(s) in Southeast Asian ovalocytosis
ORPHA:98868
: AssessedAdditional information
Patient-centred resources for this gene
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