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);


FUN

Epb4.2 protein regulates association of eryphrocyte membrane protein band 3 (GEM:17q21/SLC4A1) and eryphrocytic ankyrin 1 (GEM:08p112/ANK1)."

REF

FUN "Azim AC &: Biochemistry, 35, 3001-3006, 1996
MUT,ASS "Bouhassira EE &: Blood, 79, 1846-1854, 1992
MUT,ASS "Hayette S &: Blood, 85, 250-256, 1995a
MUT,ASS "Hayette S &: Brit J Haematol, 89, 762-770, 1995b
MUT,ASS "Ideguchi H &: Brit J Haematol, 74, 347-353, 1990
CLO,SEQ,STR "Korsgren C, Cohen CM: PNAS, 88, 4840-4844, 1991
CLO,SEQ "Korsgren C &: PNAS, 87, 613-617, 1990
MUT,ASS "Matsuda M &: Hum Mol Genet, 4, 1187-1191, 1995
LOC "Najfeld V &: AJHG, 50, 71-75, 1992
LOC "Sung LA &: CCG, 58, 1996, 1991
CLO,SEQ "Sung LA &: PNAS, 87, 955-959, 1990
LOC "White RA &: Nature Genet, 2, 80-83, 1992

SWI

SWISSPROT: P16452

KEY

hem, mem

CLA

coding, basic

LOC

15 q15

MIM

MIM: 177070

鸯铗痂蝈 蜞赕:

  • Gene: [01p3/EPB41] erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked; 80kD); elliptocytosis 1, hereditary (Rh linked; band 4.1 protein); [E41P HE EL1 ]