Article
Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.
Investigative ophthalmology & visual science - 29 Aug 2011
Castorino John J, Gallagher-Colombo Shannon M, Levin Alex V, Fitzgerald Paul G, Polishook Jessica, Kloeckener-Gruissem Barbara, Ostertag Eric, Philp Nancy J
Abstract excerpt
PURPOSE: SLC16A12 encodes an orphan member of the monocarboxylate transporter family, MCT12. A nonsense mutation in SLC16A12 (c.643C>T; p.Q215X) causes juvenile cataract with a dominant inheritance pattern. In the present study, in vitro and in vivo experimental models were used to gain insight into how the SLC16A12 (c.643C>T) mutation leads to cataract formation. METHODS: MCT12 peptide antibodies were generated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.