Gene: [10p121/CUBN] cubilin (intrinsic factor-cobalamin receptor); [IFCR ]
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COM |
The CUBN gene was mapped to Chr 10 p12.1, between markers D10S1661 and WI-5445, by fluorescence in situ hybridization, radiation hybrid mapping, and screening of YAC clones (Kozyraki-1998). This location was within the 6-cM region harboring the gene responsible for megaloblastic anemia (GEM:10p121/MGA1). This was considered circumstantial evidence that an impaired synthesis, processing, or ligand binding of cubilin is the molecular basis of Imerslund-Grasbeck disease (see GEM:10p121/MGA1)." |
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REL |
GEM:22q1/TCN2; GEM:11q1/GIF; GEM:10p121/MGA1. |
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REF |
ROD,FUN "Birn H &: JBC, 272, 26497-26504, 1997 COD,SEQ,LOC "Kozyraki R &: Blood, 91, 3593-3600, 1998 RAT,COD,SEQ "Moestrup SK &: JBC, 273, 5235-5242, 1998 ROD,FUN "Seetharam B &: J Clin Invest, 99, 2317-2322, 1997 |
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KEY |
recp |
|
CLA |
coding, basic |
|
LOC |
10 p12.1 |
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MIM |
MIM: 602997 |
|
SYN |
IFCR |
