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 |
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