Ontology highlight
ABSTRACT:
SUBMITTER: Namour F
PROVIDER: S-EPMC3208692 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Namour Fares F Dobrovoljski Gabriele G Chery Celine C Audonnet Sandra S Feillet François F Sperl Wolfgang W Gueant Jean-Louis JL
Haematologica 20110712 11
Juvenile megaloblastic anaemia 1 (OMIM # 261100) is a rare autosomic disorder characterized by selective cobalamin mal-absorption and inconstant proteinuria produced by mutations in either CUBN or AMN genes. Amnionless, the gene product of AMN, is a transmembrane protein that binds tightly to the N-terminal end of cubilin, the gene product of CUBN. Cubilin binds to intrinsic factor-cobalamin complex and is expressed in the distal intestine and the proximal renal tubule. We report a compound AMN ...[more]