This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [From RefSeq]
The MEN1 gene spans 9 kb of the genome. It is located on the long arm of chromosome 11. MEN1 contains 10 exons and encodes a 610 amino acid nuclear protein called menin. This protein comsists of 615 amino acids and has a molecular mass of about 68 kDa. Menin is widely expressed in endocrine and nonendocrine tissues. This protein works as tumour suppressor.
More than 565 different mutations have been described. The majority of these mutations are truncation mutations. Genotype-phenotype correlation has not been established.
