Searchable abstracts of presentations at key conferences in endocrinology

ea0029oc9.4 | Endocrine Tumours & Translation | ICEECE2012

Functional characterization of mutations in the multiple endocrine neoplasia type 1 (MEN1) gene suggest therapeutic strategies

Canaff L. , Hendy G.

Menin is the product of the multiple endocrine neoplasia type 1 (MEN1) gene which when inactivated causes an autosomal dominant disorder characterized by tumors of the parathyroids, endocrine pancreas and anterior pituitary.We identified an MEN1 splice-site mutation leading to a menin Δ(184–218) mutant having an in-frame deletion of 35 amino acids, but otherwise of wild-type sequence. The transfected mutant was well expressed, and like wild-typ...