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Multiple endocrine neoplasia type 1 (MEN1) is characterized by the combined occurrence of tumors of the parathyroids, pancreatic islets, and anterior pituitary. In addition, some patients may also develop adrenal cortical, carcinoid, facial angiofibromas, collageno-mas, and lipomatons tumors. MEN1 is inherited as an autosomal-dominant disorder and the gene causing MEN1 is located on chromosome 11q13. The MEN1 gene consists of 10 exons that encode a 610 amino acid protein, menin, which has a role in transcriptional regulation and genome stability. The mutations causing MEN1 are of diverse types and are scattered throughout the coding region. Mice deleted for a MEN1 allele develop endocrine tumors similar to those found in MEN1 patients. The availability of these mouse models for MEN1 will help to further elucidate the role of menin in regulating cell proliferation. © 2006 Humana Press Inc.

Original publication

DOI

10.1007/978-1-59259-963-9_39

Type

Chapter

Book title

Principles of Molecular Medicine

Publication Date

01/12/2006

Pages

386 - 392