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描述 产品目录编号 14-570M 品牌系列 Upstate
商名 - Upstate
描述 Ret Protein, active, 250 µg 概述 N-Terminal GST-tagged, recombinant, human Ret amino acids 658-end 应用 应用 Active, N-Terminal GST-tagged, recombinant, human Ret amino acids 658-end, for use in Kinase Assays. 主要应用 - Kinase Assay
生物信息 来源 expressed by baculovirus in Sf21 insect cells 品种 Human 特异活性 For Specific Activity data, refer to the Certificate of Analysis for individual lots of this enzyme. Entrez基因编号 - NM_020975.4
- NM_020630.4
Entrez基因汇总 This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. 基因符号 - MEN2B
- RET
- HSCR1
- MEN2A
- PTC
- CDHF12
- RET51
- RET-ELE1
- C-ret
- MTC1
蛋白靶 Ret 纯化方法 Glutathione agarose affinity chromatography 靶子系列 TK UniProt编号 - P07949
UniProt汇总 FUNCTION: SwissProt: P07949 # Probable receptor with tyrosine-protein kinase activity; important for development.
SIZE: 1114 amino acids; 124319 Da
SUBUNIT: Phosphorylated form interacts with the PBT domain of DOK2, DOK4 and DOK5 (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
PTM: Phosphorylated. & Autophosphorylated on C-terminal tyrosine residues upon ligand stimulation.
DISEASE: SwissProt: P07949 # Defects in RET are a cause of pheochromocytoma [MIM:171300]. The pheochromocytomas are catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In the remaining 10% of cases, they develop in extra- adrenal sympathetic ganglia and may be referred to as paraganglioma. Pheochromocytoma usually presents with hypertension. Approximately 10% of pheochromocytoma is hereditary. The genetic basis for most cases of non-syndromic familial pheochromocytoma is unknown. & Defects in RET are the cause of medullary thyroid carcinoma (MTC) [MIM:155240]. MTC is a rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation. & Defects in RET are the cause of multiple neoplasia type IIA (MEN2A) [MIM:171400]; also called multiple neoplasia type II (MEN2). MEN2A, the most frequent form of MTC, is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. & Defects in RET are the cause of multiple neoplasia type IIB (MEN2B) [MIM:162300]. MEN2B is an uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophtalmic abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly with the development of metastatic MTC and a pheochromocytome in 50% of cases. & Defects in RET are a cause of Hirschsprung disease (HSCR) [MIM:142623]. HSCR is a genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction. Occasionally, MEN2A or FMTC occur in association with HSCR. & Chromosomal aberrations involving RET are a cause of thyroid papillary carcinoma (PACT) [MIM:188550]. Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene; inversion inv(10)(q11.2;q11.2) generates the RET/NCOA4 (PTC3) oncogene; translocation t(10;14)(q11;q32) with GOLGA5 generates the RET/GOLGA5 (PTC5) oncogene; translocation t(8;10)(p21.3;q11.2) with PCM1 generates the PCM1/RET fusion; translocation t(6;10)(p21.3;q11.2) with RFP generates the Delta RFP/RET oncogene; translocation t(1;10)(p13;q11) with TRIM33 generates the TRIM33/RET (PTC7) oncogene; translocation t(7;10)(q32;q11) with TIF1 generates the TIF1/RET (PTC6) oncogene. The PTC5 oncogene has been found in 2 cases of PACT in children exposed to radioactive fallout after Chernobyl. & Defects in RET are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. & Defects in RET may be a cause of colorectal cancer (CRC) [MIM:114500].
SIMILARITY: SwissProt: P07949 ## Belongs to the protein kinase superfamily. Tyr protein kinase family. & Contains 1 cadherin domain. & Contains 1 protein kinase domain.产品使用声明 质量保证 routinely evaluated by phosphorylation of IFG-1Rtide 使用声明 - Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
储存和货运信息 存储条件 6 months at -70°C 包装信息 数量 250 µg 包装 Also available in 10 μg size (cat#14-570) and in bulk (cat# 14-570-K).
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