Searchable abstracts of presentations at key conferences in endocrinology

ea0021p233 | Growth and development | SFEBES2009

A novel dominant-negative Glial Cells Missing B (GCMB) mutation (Asn502His) is associated with autosomal dominant hypoparathyroidism and results in reduced transactivation activity

Bowl Michael , Mirzcuk Samantha , Fratter Carl , Cranston Treena , Allgrove Jeremy , Brain Caroline , Nesbit Andrew , Thakker Rajesh

Glial cells missing B (GCMB), which is the mammalian homologue of the Drosophila GCM gene, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a DNA-binding domain (residues 21–174); a predicted nuclear localization signal (residues 176–193); an inhibitory domain (residues 258–347); and two transactivation domains (residues 174–263, and residues 428–506). To date only two different GCMB m...