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Anion exchange protein 1

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.

Genetests:

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

Related Diseases:

Distal renal tubular acidosis (autosomal dominant)
SLC4A1
Ovalocytosis
SLC4A1

References:

1.

Bruce LJ et al. (2004) Altered structure and anion transport properties of band 3 (AE1, SLC4A1) in human red cells lacking glycophorin A.

external link
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.

external link
3.

OMIM.ORG article

Omim 109270 external link
4.

Orphanet article

Orphanet ID 119669 external link
5.

NCBI article

NCBI 6521 external link
6.

Wikipedia article

Wikipedia EN (Band_3) external link
Update: Aug. 14, 2020
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