Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The mature anion exchange protein is located in the luminal membrane of distal tubular cells and erythrocytes. If defective, distal renal tubular acidosis and ovalocytosis may result.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 20 days | |
| Specimen type | genomic DNA |
| 1. |
Bruce LJ et al. (2004) Altered structure and anion transport properties of band 3 (AE1, SLC4A1) in human red cells lacking glycophorin A. 
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| 2. |
Shayakul C et al. (2004) Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.
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| 3. |
OMIM.ORG article Omim 109270
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| 4. |
Orphanet article Orphanet ID 119669
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| 5. |
NCBI article NCBI 6521
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| 6. |
Wikipedia article Wikipedia EN (Band_3)
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