New human apical iodide transporter useful for screening of compounds able to modulate apical iodide transport in cells for treatment, prevention or diagnosis of dysfunctional iodide transport

摘要

Isolated, purified protein (I) comprising a fully defined sequence of 610 amino acids (S2) or a sequence at least 70-99 % similar to (S2) over its entire length, where the sequence AAH 17691 of the NCBI database is specifically exclude, is new. Independent claims are also included for: (1) a peptide fragment (Ia) of (I) containing at least 7 amino acids (aa); (2) isolated nucleic acid (II) that encodes (I), and its sense and antisense complements; (3) probe or primer (III) containing at least 8 base pairs (bp) of (II) but excluding AI261687, AI433656, AI793005 and AW195079 of GenBank and BC017691 of NCBI; (4) a recombinant vector that contains (II) or (III); (5) a cell transformed with the vector of (4); (6) antibodies (Ab) directed against (I) or (Ia); (7) a transgenic non-human mammal that contains cells transformed with (II); (8) screening for compounds able to modulate apical iodide transport in cells; (9) detecting a mutation in the AIT (apical iodide transporter) gene; and (10) a kit for the screening and detection methods.