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Antilichamen
Itemnummer:
(BOSSBS-5980R-FITC)
Leverancier:
Bioss
Omschrijving:
This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-13152R-FITC)
Leverancier:
Bioss
Omschrijving:
FCHO1 (FCH domain only 1) is an 889 amino acid protein that contains one FCH domain and exists as multiple alternatively spliced isoforms. The gene encoding FCHO1 maps to human chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-5980R-A488)
Leverancier:
Bioss
Omschrijving:
This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-9006R-A350)
Leverancier:
Bioss
Omschrijving:
Adenosine deaminase is an enzyme that is present in most tissues and exists predominantly as a monomer, although in some tissues it is associated with adenosine deaminase-binding protein. Adenosine deaminase degrades extracellular adenosine, which is toxic for lymphocytes. A novel family of growth factors that share sequence similarity to adenosine deaminase has been identified. The cat eye syndrome critical region protein (CECR) family includes CECR1, CECR2, CECR3, CECR4, CECR5, CECR6, CECR7, CECR8 and CECR9. The genes encoding CECR proteins are candidates for Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. CES is characterized by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. CECR family members are widely expressed. Specifically, CECR1 has the highest expression in adult heart, lung, lymphoblasts and placenta. CECR2 is also involved in neurulation and chromatin remodeling. Mutations in the CECR2 gene result in neural tube defects.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-9657R-CY5.5)
Leverancier:
Bioss
Omschrijving:
Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The FAM78B gene product has been provisionally designated FAM78B pending further characterization.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-5148R-CY3)
Leverancier:
Bioss
Omschrijving:
Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-9659R-CY3)
Leverancier:
Bioss
Omschrijving:
With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The FAM76B gene product has been provisionally designated FAM76B pending further characterization.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-12182R-A680)
Leverancier:
Bioss
Omschrijving:
Voltage-gated K+ channels in the plasma membrane control the repolarisation and the frequency of action potentials in neurons, muscles, and other excitable cells. The KV gene family encodes more than 30 genes that comprise the subunits of the K+ channels, and they vary in their gating and permeation properties, subcellular distribution, and expression patterns. Functional KV channels assemble as tetramers consisting of pore-forming a-subunits (KV), which include the KV1, KV2, KV3, and KV4 proteins, and accessory or KV-subunits that modify the gating properties of the coexpressed KV subunits. Differences exist in the patterns of trafficking, biosynthetic processing, and surface expression of the major KV1 subunits (KV1.1, KV1.2, and KV1.4) expressed in rat and human brain, suggesting that the individual protein subunits are highly regulated to control for the assembly and formation of functional neuronal channels. KV beta.2 can also be designated KCNAB2, KKv beta2.1 or AKR6A5.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-13059R-A680)
Leverancier:
Bioss
Omschrijving:
Fibulin proteins contribute to normal development of elastic fiber systems in various types of organs that require elasticity, such as vasculature, lung and skin. Fibulin-4, also known as EFEMP2 (EGF-containing fibulin-like extracellular matrix protein 2), MBP1 or UPH1 is a 443 amino acid secreted protein that contains six EGF-like calcium-binding domains and belongs to the fibulin family. Expressed ubiquitously with highest expression in heart, Fibulin-4 is essential for connective tissue development and elastic fiber formation, and may also play an important role in vascular patterning and collagen biosynthesis. Defects in the gene encoding Fibulin-4 are associated with autosomal recessive cutis laxa type I (CL type I), a connective tissue disorder that is inherited in both an autosomal dominant and an autosomal recessive manner and is characterized by inelastic tissue in all affected areas of the body.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-0160R-FITC)
Leverancier:
Bioss
Omschrijving:
The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-13016R-CY7)
Leverancier:
Bioss
Omschrijving:
DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to replication foci.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-0161R-A647)
Leverancier:
Bioss
Omschrijving:
Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake. Low affinity receptor which can bind to NGF, BDNF, NT-3, and NT-4. Can mediate cell survival as well as cell death of neural cells. Necessary for the circadian oscillation of the clock genes ARNTL/BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-13016R-CY3)
Leverancier:
Bioss
Omschrijving:
DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to replication foci.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-13010R-A750)
Leverancier:
Bioss
Omschrijving:
DNA repair proteins are necessary for the maintenance of chromosome integrity and are involved in the elimination of premutagenic lesions from DNA. The DNA repair proteins Rad51 and Rad52 are key components of the double-strand-break repair (DSBR) pathway. Rad51 is essential for mitotic and meiotic recombination, and its mutation in yeast and mammalian cells results in chromosome loss. Overexpression of Rad52 confers resistance to ionizing radiation and induces homologous intrachromosomal recombination. Rad52 is thought to be involved in an early stage of Rad51-mediated recombination. Additional proteins involved in the pathway include Nibrin and Dmc1. Nibrin, which complexes with Mre11 and Rad50, is absent in Nijemegen breakage syndrome (NBS) patients. Dmc1 is specifically involved in meiotic recombination. An alternative spliced form of Dmc1, designated Dmc1-D, is deleted for a region between the two motifs involved in nucleotide binding. The alternatively spliced Dmc1-D transcript is detected in both male and female germ cells, indicating that the encoded protein may have a role in mammalian genetic recombination in meiosis.
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-3888R-A350)
Leverancier:
Bioss
Omschrijving:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).
UOM:
1 * 100 µl
Itemnummer:
(BOSSBS-11153R-HRP)
Leverancier:
Bioss
Omschrijving:
Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB12 (Protocadherin beta 12) is a 795 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whose genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB12) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. Localized to the cell membrane, PCDHB12 is a single-pass type I membrane protein that contains six cadherin domains. PCDHB12 may participate in the establishment and maintenance of specific neuronal connections in the brain.
UOM:
1 * 100 µl
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