Ontology highlight
ABSTRACT:
SUBMITTER: Smith RC
PROVIDER: S-EPMC3533557 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Smith Rosamund C RC O'Bryan Linda M LM Farrow Emily G EG Summers Lelia J LJ Clinkenbeard Erica L EL Roberts Jessica L JL Cass Taryn A TA Saha Joy J Broderick Carol C Ma Y Linda YL Zeng Qing Qiang QQ Kharitonenkov Alexei A Wilson Jonathan M JM Guo Qianxu Q Sun Haijun H Allen Matthew R MR Burr David B DB Breyer Matthew D MD White Kenneth E KE
The Journal of clinical investigation 20121126 12
The FGF23 coreceptor αKlotho (αKL) is expressed as a membrane-bound protein (mKL) that forms heteromeric complexes with FGF receptors (FGFRs) to initiate intracellular signaling. It also circulates as an endoproteolytic cleavage product of mKL (cKL). Previously, a patient with increased plasma cKL as the result of a translocation [t(9;13)] in the αKLOTHO (KL) gene presented with rickets and a complex endocrine profile, including paradoxically elevated plasma FGF23, despite hypophosphatemia. The ...[more]