MEN1

3U84, 3U85, 3U86, 3U88, 4GPQ, 4GQ3, 4GQ4, 4I80, 4OG3, 4OG4, 4OG5, 4OG6, 4OG7, 4OG8, 4X5Y, 4X5Z, 5DDF, 5DD9, 5DDA, 5DDE, 5DDB, 5DDD, 5DDC, 5DB0, 5DB3, 5DB1, 5DB2422117283ENSG00000133895n/aO00255O88559NM_130803NM_130804NM_001370251NM_001370259NM_001370260NM_001370261NM_001370262NM_001370263NM_001168488NM_001168489NM_001168490NM_008583NP_570715NP_570716NP_001357180NP_001357188NP_001357189NP_001357190NP_001357191NP_001357192NP_001161960NP_001161961NP_001161962NP_032609Menin is a protein that in humans is encoded by the MEN1 gene. Menin is a putative tumor suppressor associated with multiple endocrine neoplasia type 1 (MEN-1 syndrome). Menin is a protein that in humans is encoded by the MEN1 gene. Menin is a putative tumor suppressor associated with multiple endocrine neoplasia type 1 (MEN-1 syndrome). In vitro studies have shown that menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD. However, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Two variants of the shorter transcript have been identified where alternative splicing affects the coding sequence. Five variants where alternative splicing takes place in the 5' UTR have also been identified. In 1988, researchers at Uppsala University Hospital and the Karolinska Institute in Stockholm mapped the MEN1 gene to the long arm of chromosome 11. The gene was finally cloned in 1997. The gene is located on long arm of chromosome 11 (11q13) between base pairs 64,570,985 and 64,578,765. It has 10 exons and encodes a 610-amino acid protein. Over 1300 mutations have been reported to date (2010). The majority (>70%) of these are predicted to lead to truncated forms are scattered throughout the gene. Four - c.249_252delGTCT (deletion at codons 83-84), c.1546_1547insC (insertion at codon 516), c.1378C>T (Arg460Ter) and c.628_631delACAG (deletion at codons 210-211) have been reported to occur in 4.5%, 2.7%, 2.6% and 2.5% of families. The MEN1 phenotype is inherited via an autosomal-dominant pattern and is associated with neoplasms of the pituitary gland, the parathyroid gland, and the pancreas (the 3 'P's). While these neoplasias are often benign (in contrast to tumours occurring in MEN2A), they are adenomas and, therefore, produce endocrine phenotypes. Pancreatic presentations of the MEN1 phenotype may manifest as Zollinger-Ellison syndrome.