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SLC4A1

From SNPedia

is agene
is mentioned by
Full namesolute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
EntrezGene6521
PheGenI6521
VariationViewer6521
ClinVarSLC4A1
GeneCardsSLC4A1
dbSNP6521
SADR6521
HugeNav6521
wikipediaSLC4A1
googleSLC4A1
gopubmedSLC4A1
EVSSLC4A1
HEFalMpSLC4A1
MyGene2SLC4A1
23andMeSLC4A1
UniProtP02730
EnsemblENSG00000004939
OMIM109270
# SNPs38
 Max MagnitudeChromosome positionSummary
rs12191274044,254,581
rs121912741044,251,588
rs121912742044,258,512
rs121912743044,255,804
rs121912744044,255,707
rs121912745044,255,708
rs121912746044,255,259
rs121912747044,255,708
rs121912748044,253,327
rs121912749044,260,501
rs121912750044,251,305
rs121912751044,251,241
rs121912752044,251,264
rs121912753044,251,583
rs121912754044,255,292
rs121912755044,253,150
rs121912756044,257,538
rs121912757044,254,616
rs121912758044,254,617
rs121912759044,251,211
rs207208144,250,125
rs2285644044,251,253
rs28929480044,260,716
rs28931583044,258,520
rs28931584044,257,514
rs28931585044,251,206
rs387906565044,262,928
rs387906566044,251,435
rs45562031044,261,625
rs502344,253,361
rs5036044,261,577
rs56361140044,260,441
rs75731670044,254,581
rs863225461044,253,238
rs863225462044,253,228
rs863225463044,253,369
rs878853002044,255,272


SLC4A1, solute carrier family 4 member 1 is a Band 3 anion transport protein also called anion exchanger 1 (AE1) or Band 3. Different isoforms in kidney and red blood cells lead to the Diego antigen blood group. There are 21 antigens: Di-b is common in all populations, but Di-a only occurs in some indigenous peoples, and the rest of rare. No cases have been found lacking any Diego antigen.

Mutations affect kidney function, immunity, and blood compatibility.

10.1371/journal.pmed.1001305 The erythrocyte polymorphism, Southeast Asian ovalocytosis (SAO) (which results from a 27-base pair deletion in the erythrocyte band 3 gene, SLC4A1Δ27) protects against cerebral malaria caused by Plasmodium falciparum; however, it is unknown whether this also protects against P. vivax.