Multiple Endocrine Neoplasia I (MEN1)

MEAI; SCG2; Menin

SPN	U597
HGNC	7010
MGI	1316736
PubMed	20833329
RGD	3078
UniProt	O00255
Wiki	MEN1

MEN1 is 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.Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease, primary hyperparathyroidism, and acute forms of hyperinsulinemia.

Reference

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"Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening."
Hum. Mutat. 17:237-237(2001) [PubMed] [Europe PMC] [Abstract]

"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein."
Hum. Mutat. 20:35-47(2002) [PubMed] [Europe PMC] [Abstract]

"A novel six-nucleotide insertion in exon 4 of the MEN1 gene, 878insCTGCAG, in three patients with familial insulinoma and primary hyperparathyroidism."
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"Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1."
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"Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism."
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"Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism."
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"Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders."
Clin. Genet. 64:48-53(2003) [PubMed] [Europe PMC] [Abstract]

"Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis."
Electrophoresis 24:26-33(2003) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation of the MEN1 gene in a multiple endocrine neoplasia type 1 patient associated with carcinoid syndrome."
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"Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients."
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"Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene."
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"Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas."
Clin. Endocrinol. (Oxf.) 67:370-376(2007) [PubMed] [Europe PMC] [Abstract]

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