Recombinant人Ret (mutated V804 L) protein (ab125531)

概述

描述

  • 性质Recombinant
  • 来源Baculovirus infected Sf9 cells
  • 氨基酸序列
    • AccessionP07949-2
    • 种属Human
    • 分子量74 kDa including tags
    • 氨基酸658 to 1072

技术指标

Our Abpromise guarantee covers the use of ab125531 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • 生物活性The specific activity of ab125531 was determined to be 455 nmol/min/mg.
  • 应用

    Western blot

    Functional Studies

    SDS-PAGE

  • 纯度> 95 % Densitometry.
    Purity determined to be >95% by densitometry.
  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 7.50
    Constituents: 0.31% Glutathione, 0.002% PMSF, 0.004% DTT, 0.79% Tris HCl, 0.003% EDTA, 25% Glycerol, 0.88% Sodium chloride

    This product is an active protein and may elicit a biological response in vivo, handle with caution.

常规信息

  • 别名
    • C ret
    • Cadherin family member 12
    • Cadherin related family member 16
    • CDHF 12
    • CDHF12
    • CDHR16
    • ELKS Fusion gene
    • HSCR 1
    • HSCR1
    • Hydroxyaryl protein kinase
    • MEN2A
    • MEN2B
    • MTC 1
    • MTC1
    • Multiple endocrine neoplasia and medullary thyroid carcinoma 1
    • Oncogene RET
    • Proto oncogene tyrosine protein kinase receptor ret
    • Proto-oncogene c-Ret
    • Proto-oncogene tyrosine-protein kinase receptor ret
    • PTC
    • RET
    • RET ELE1
    • Ret Proto oncogene
    • RET transforming sequence
    • RET_HUMAN
    • RET51
    • RET9
    • tyrosine-protein kinase receptor ret
    see all
  • 功能Probable receptor with tyrosine-protein kinase activity; important for development.
  • 疾病相关Defects in RET may be a cause of colorectal cancer (CRC) [MIM:114500].
    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.
    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 2B (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 susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
    Defects in RET are the cause of multiple neoplasia type 2A (MEN2A) [MIM:171400]; also known as multiple neoplasia type 2 (MEN2). MEN2A is the most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism.
    Defects in RET are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=Chromosomal aberrations involving RET are found in thyroid papillary carcinomas. 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 TRIM24/TIF1 generates the TRIM24/RET (PTC6) oncogene. The PTC5 oncogene has been found in 2 cases of PACT in children exposed to radioactive fallout after Chernobyl. A chromosomal aberration involving TRIM27/RFP is found in thyroid papillary carcinomas. Translocation t(6;10)(p21.3;q11.2) with RET. The translocation generates TRIM27/RET and delta TRIM27/RET oncogenes.
    Defects in RET are a cause of renal adysplasia (RADYS) [MIM:191830]; also known as renal agenesis or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy.
    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.
  • 序列相似性Belongs to the protein kinase superfamily. Tyr protein kinase family.
    Contains 1 cadherin domain.
    Contains 1 protein kinase domain.
  • 翻译后修饰Autophosphorylated on C-terminal tyrosine residues upon ligand stimulation. Dephosphorylated by PTPRJ on Tyr-905, Tyr-1015 and Tyr-1062.
  • 细胞定位Membrane.
  • Information by UniProt

Recombinant human Ret (mutated V804 L) protein 图像

  • SDS-PAGE analysis of ab125531.
  • The specific activity of ab125531 was determined to be 455 nmol/min/mg by Kinase Assay.

Recombinant human Ret (mutated V804 L) protein (ab125531)参考文献

ab125531 has not yet been referenced specifically in any publications.

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