MEN1
From Wikipedia, the free encyclopedia
Multiple endocrine neoplasia I
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Identifiers | ||||||||||||||
Symbol(s) | MEN1; MEAI; SCG2 | |||||||||||||
External IDs | OMIM: 131100 MGI: 1316736 HomoloGene: 7418 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 4221 | 17283 | ||||||||||||
Ensembl | ENSG00000133895 | ENSMUSG00000024947 | ||||||||||||
Uniprot | O00255 | Q3U491 | ||||||||||||
Refseq | NM_000244 (mRNA) NP_000235 (protein) |
NM_008583 (mRNA) NP_032609 (protein) |
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Location | Chr 11: 64.33 - 64.34 Mb | Chr 19: 6.34 - 6.34 Mb | ||||||||||||
Pubmed search | [1] | [2] |
MEN1 is a gene that encodes menin, a putative tumor suppressor associated with multiple endocrine neoplasia type 1.
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.[1]
[edit] References
[edit] Further reading
- Tsukada T, Yamaguchi K, Kameya T (2002). "The MEN1 gene and associated diseases: an update.". Endocr. Pathol. 12 (3): 259–73. PMID 11740047.
- Kong C, Ellard S, Johnston C, Farid NR (2002). "Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation.". J. Endocrinol. Invest. 24 (10): 806–10. PMID 11765051.
- Thakker RV (2002). "Multiple endocrine neoplasia.". Horm. Res. 56 Suppl 1: 67–72. PMID 11786689.
- Stowasser M, Gunasekera TG, Gordon RD (2002). "Familial varieties of primary aldosteronism.". Clin. Exp. Pharmacol. Physiol. 28 (12): 1087–90. PMID 11903322.
- Kameya T, Tsukada T, Yamaguchi K (2004). "Recent advances in MEN1 gene study for pituitary tumor pathogenesis.". Frontiers of hormone research 32: 265–91. PMID 15281352.
- Balogh K, Rácz K, Patócs A, Hunyady L (2007). "Menin and its interacting proteins: elucidation of menin function.". Trends Endocrinol. Metab. 17 (9): 357–64. doi: . PMID 16997566.
- Lytras A, Tolis G (2006). "Growth hormone-secreting tumors: genetic aspects and data from animal models.". Neuroendocrinology 83 (3-4): 166–78. doi: . PMID 17047380.