Gene: [17q21/SLC4A1] solute carrier family 4, anion exchanger, member 1; erythrocyte membrane protein band 3; Diego blood group (MIM:110500); Waldner blood group (Wd(a) antigenic expression; MIM:112010); Wright blood group antigen (MIM:112050); choreoacanthocytosis (anion transport defect); elliptocytosis, malaysian-melanesian type and type IV; ovalocytosis, malaysian-melanesian-filipino type and southeast asian type; erythrocytosis, stomatocytic hereditary; [MPB3 EBND3 ]
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COM |
Xu-1989 refined the localization of this gene, basing on the results of genetic and fine physical mapping of chr 17q loci (see GEM:17q21/RNU2)." |
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FAG |
[1] There is a related protein in leukocytes, non-erythroid erythrocyte
surface band 3-like protein (see GEM:07q3/SLC4A2).
[2] About neuronal and cardiac anion exchanger 3 see GEM:02q36/SLC4A3." |
|
ASS |
The defect of MPB3 protein was accidentally found in sibs with mild acanthocytosis (Kay-1987)." |
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MUT |
Bruce-1995 demonstrated that the Wd(a) antigenic expression is due to the substitution val557-to-met in the SLC4A1 gene." |
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REF |
MUT "Bruce LJ &: Transfusion, 35, (Suppl), 52S, 1995 REV,FUN,PEP,MOP "Jennings ML: J Membr Biol, 80, 105-117, 1984 FUN,PEP,SEQ "Kaul RK &: JBC, 258, N13, 7981-7990, 1983 ASS,PHE,FOG "Kay &: Clin Res, 35, 599A, 1987 PRO,LOC "Showe LC &: Genomics, 1, N1, 71-76, 1987 LOC,LIN,MAG,MAF "Spring &: Biochem J, 288, 713-716, 1992 PRO,SEQ,MOP,TRC,EXP "Tanner &: J Biochem, 256, 703-712, 1988 LOC,LIN,MAG,MAF "Xu WM &: CCG, 51, (HGM10), 1111-1112, 1989 LOC,LIN,MAG,MAF "Xu WM &: PNAS, 85, N22, 8563-8567, 1988 LOC,LIN,MAG,MAF "Xu WM &: CCG, 46, (HGM9), 721, 1987 LIN,LOC "Zelinski T &: Genomics, 25, 320-322, 1995 LIN "Zelinski T &: Genomics, 17, 665-666, 1993 |
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KEY |
hem, mem, ion, trp, mtbd |
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CLA |
coding, basic |
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LOC |
17 q21 |
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MIM |
MIM: 109270 |
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SYN |
MPB3 EBND3 |
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