Searchable abstracts of presentations at key conferences in endocrinology

ea0013p126 | Growth and development | SFEBES2007

Characterisation of parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) in 3 families with autosomal recessive hypoparathyroidism

Bowl Michael , Mirczuk Samantha , Southam Lorraine , Mughal Zulf , Ryan Fiona , Shaw Nick , Tham Elaine , Hochberg Ze’ev , Tiosano Dov , Loughlin John , Andrew Nesbit M , Thakker Rajesh

GCMB, which is the mammalian homologue of the Drosophila gene Glial cells missing, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a DNA-binding domain at residues 21–174; a predicted nuclear localization signal at residues 176–193; an inhibitory domain at residues 258–347; and two transactivation domains at residues 174–263, and residues 428–506. Mutations of GCMB, which is located on chrom...