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 ]


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)."

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)."

MUT

Bruce-1995 demonstrated that the Wd(a) antigenic expression is due to the substitution val557-to-met in the SLC4A1 gene."

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

KEY

hem, mem, ion, trp, mtbd

CLA

coding, basic

LOC

17 q21

MIM

MIM: 109270

SYN

MPB3 EBND3

鸯铗痂蝈 蜞赕:

  • Gene: [08p112/ANK1] ankyrin 1, erythrocytic (ankyrin R); spherocytosis, type II; [SPH2 ]
  • Gene: [15q15/EPB42] erythrocyte membrane protein band 4.2 (pallidin); hereditary hemolytic anemia (alleles 4.2-Lisboa and 4.2-Tuzear); hereditary spherocytosis (Japanese type, autosomal recessive, alleles 4.2-Notame and 4.2-Nippon);
  • Gene: [17q21/UBTF] upstream binding transcription factor, RNA polymerase I;