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Rabbit Anti-Menin/FITC Conjugated antibody
background:
This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq].
Function:
Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair.
Subunit:
Component of MLL-containing complexes
Subcellular Location:
Nucleus. Note=Concentrated in nuclear body-like structures. Relocates to the nuclear matrix upon gamma irradiation.
Tissue Specificity:
Ubiquitous.
DISEASE:
Defects in MEN1 are the cause of familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]. 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.
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.
Database links:
Entrez Gene: 4221 Human
Entrez Gene: 17283 Mouse
Entrez Gene: 29417 Rat
Omim: 613733 Human
SwissProt: O00255 Human
SwissProt: O88559 Mouse
SwissProt: Q9WVR8 Rat
Unigene: 423348 Human
Unigene: 12917 Mouse
Unigene: 453222 Mouse
Unigene: 6775 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
menin为肿瘤抑制蛋白，在调节细胞增殖、细胞凋亡、造血作用、白血病发生以及染色体相关蛋白等方面有着多种重要及关键的生物学调控功能；Menin目前主要在胰岛β细胞增殖调控、多发性内分泌瘤（MEN1）以及促进妊娠糖尿病的发生等研究方面。
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