功能： disease:Defects in MEN1 are the cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.,disease:Defects in MEN1 are the cause of familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]; an autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.,function:May be involved in DNA repair.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,subcellular location:Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.,subunit:Interacts with FANCD2 and DBF4. Component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 and/or MLL4), and the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP and C16orf53/PA1.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.
功能： disease:Defects in MEN1 are the cause of familial isolated hyperparathyroidism (FIHP) [MIM:145000]; also known as hyperparathyroidism type 1 (HRPT1). FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.,disease:Defects in MEN1 are the cause of familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]; an autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.,function:May be involved in DNA repair.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,subcellular location:Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.,subunit:Interacts with FANCD2 and DBF4. Component of MLL-containing complexes (named MLL, ASCOM, MLL2/MLL3 or MLL3/MLL4 complex): at least composed ASH2L, RBBP5, DPY30, WDR5, one or several histone methyltransferases (MLL, MLL2, MLL3 and/or MLL4), and the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP and C16orf53/PA1.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.
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