Mutations in the MEN1 gene can cause multiple endocrine neoplasia type 1 (OMIM #613733) - an autosomal dominant disorder in which the protein menin is affected. The gene encoding menin is found on chromosome 11q13 and consists of ten exons. The GenBank reference sequence NC_000011.9 and NM_130799.2 were used.
Many of these mutations lead to the production of an abnormally short, inactive version of menin or an unstable protein that rapidly breaks down. As a result, one copy of the MEN1 gene in each cell makes no functional protein. If the second copy of the MEN1 gene is also altered in certain cells, those cells have no working copies of the gene and do not produce any menin. Without this protein, cells in endocrine glands and other tissues may divide too frequently and form tumors.
This database currently documents known MEN1 missense variants and associated clinical information from symptomatic patients. We are grateful to Rodrigo A. Toledo, PhD, Delmar M. Lourenco-Jr, MD, and Sergio P. A. Toledo, PhD, MD, (Unidade de Endocrinologia Genética, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo), for expertise and collaboration which allows this unique clinical curation.
ARUP Laboratories offers the following testing:
The MEN1 database currently has 176 missense variants.
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