Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.

ABSTRACT:

Background

The monocarboxylate transporter 8 (MCT8) is a member of the major facilitator superfamily (MFS) and transports specificly iodothyronines. MCT8 mutations are the underlying cause of a syndrome of severe X-linked psychomotor retardation known as the Allan-Herndon-Dudley syndrome. This syndrome is characterized by abnormally high T3, low/normal T4 serum levels and slightly elevated serum TSH. To date, more than 25 pathogenic mutations in hMCT8 are known and they are valuable indicators of important regions for structural and functional MCT8 properties.

Methods

We designed a structural human MCT8 model and studied reported pathogenic missense mutations with focus on the estimation of those amino acid positions which are probably sensitive for substrate transport. Furt

SUBMITTER: Kleinau G 

PROVIDER: S-EPMC3155110 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature