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 ]
|
COM |
[1] Tang-1991 localized the EL1 (EPB41) gene to 1p34.2-33. They used
the in situ hybridization of a genomic probe (15 kb) with a fluorescent
label and the counting of FLpter (fractional length of the total
chromosome relative to the terminus of the short arm).
[2] A protein similar to the 4.1 has been found in brain, lens, and non-erythroid blood cells. This cerebral form is known as synapsin I (GEM:0Xp1123/SYN1)." |
|
FUN |
Erythrocyte membrane protein band 4.1 is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane." |
|
REL |
GEM:20q1/EPB41L1; GEM:15q15/EPB42; GEM:08p211/EPB49; GEM:09q341/EPB72. |
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REF |
CLO,SEQ,GEN,LOC "Baklouti F &: Genomics, 39, N3, 289-302, 1997 MUT,MOL "Conboy JG &: J Clin Invest, 91, 77-82, 1993a MOP,STR,FUN,MOL "Conboy JG: Semin Hematol, 30, 58-73, 1993b PRO,TRL,PEP,MEB "Conboy JG &: PNAS, 85, 9062-9065, 1988 LOC,PRO "Conboy JG &: New Engl J Med, 315, 680-685, 1986a PRO,SEQ,MOP "Conboy JG &: PNAS, 83, N24, 9512-9516, 1986b CLO,PRO "Conboy JG &: Blood, 66 (suppl 1), 31A, 1985 LOC,LIN "Cook PJL &: Ann Hum Genet, 41, 157-162, 1977 PEP,SEQ,MOP "Correas I &: JBC, 261, 13362-13366, 1986 MUT,MOL "Dalla Venezia N &: J Clin Invest, 90, 1713-1717, 1992 FUN,PEP "Fairbanks G &: Biochemistry, 10, 2606-2617, 1971 PAT "Feo CJ &: Nouv Rev Franc Hematol, 22, 315-325, 1980 MUT "Garbarz M &: Hum Mut, 5, N4, 339-340, 1995 PAT "Garbarz M &: Blood, 64, 1006-1015, 1984 PAT "Lambert S, Zail S: Am J Hematol, 26, 263-272, 1987 PAT "Morle L &: Blood, 65, 1511-1517, 1985 LOC,LIN "Morton NE: AJHG, 8, 80-96, 1956 PAT "Takakuwa Y &: J Clin Invest, 78, 80-85, 1986 LOC,PRO "Tang CJC, Tang TK: CCG, 57, N2-3, 119, 1991 PRO,TRL,PEP,MEB "Tang TK &: PNAS, 85, 3713-3717, 1988a EXP "Tang TK &: Clin Res, 36, A405, 1988b PAT "Tomaselli MB &: PNAS, 78, 1911-1915, 1981 |
|
KEY |
hem, mem, cysk |
|
CLA |
coding, basic |
|
LOC |
01 p36.2-34 |
|
MIM |
MIM: 130500 |
|
SYN |
E41P HE EL1 |
