Gene: [19p132/EPOR] erythropoietin receptor; erythroleukemia; familial erythrocytosis;
|
EAG |
According to Budarf-1991, the murine homologues of EPOR and LDLR (GEM:19p132/LDLR) are tightly linked. The corresponding human genes are also linked." |
|
FAG |
Gene for erythropoietin has been cloned and mapped to Chr 7 (GEM:07q21/EPO). |
|
MUT |
[1] Le Couedic-1996 studied 10 cases of human erythroleukemia and
in 1 found heterozygosity for an asn487-to-ser amino acid substitution
in the eighth exon of the EPOR gene.
[2] In a family with dominantly inherited familial erythrocytosis, Arcasoy-1997 showed that affected members were heterozygous for a deletion of 7 nucleotides between positions 5985 and 5991 in exon 8 of the EPOR gene, resulting in an EPOR peptide that was truncated by 59 amino acids at its C-terminus." |
|
REF |
MUT "Arcasoy MO &: Blood, 89, 4628-4635, 1997 PRO,LOC,EAG,HUM,MOU "Budarf M &: Genomics, 8, N3, 575-578, 1990 REV "D'Andrea AD, Zon LI: J Clin Invest, 86, 681-687, 1990 LIN,LOC,PAT "de la Chapelle A &: Lancet, 341, 82-84, 1993a MUT "de la Chapelle A &: PNAS, 90, 4495-4499, 1993b CLO,EXP "Jones SS &: Blood, 76, 31-35, 1990 MUT "Le Couedic J-P &: Blood, 87, 1502-1511, 1996 MEB,FUN "McCaffery &: JBC, 264, N18, 10507-10512, 1989 CLO "Noguchi CT &: Blood, 78, 2548-2556, 1991 CLO,SEQ,GEN "Penny LA, Forget BG: Genomics, 11, 974-980, 1991 CLO,COD,SEQ,LOC "Winkelmann JC &: Blood, 76, 24-30, 1990 |
|
KEY |
hem, recp, mem |
|
CLA |
coding, basic |
|
LOC |
19 p13.2 |
|
MIM |
MIM: 133171 |
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