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Numéro de catalogue:
(BOSSBS-0836R-CY7)
Fournisseur:
Bioss
Description:
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12321R-FITC)
Fournisseur:
Bioss
Description:
Tect3 is a 607 amino acid single-pass type I membrane protein that belongs to the tectonic family and exists as four alternatively spliced isoforms. Tect3 interacts with MKS1 and may be involved in apoptosis regulation. The gene that encodes Tect3 contains approximately 31,560 bases and maps to human chromosome 10q24.1. Spanning nearly 135 million base pairs and encoding nearly 1,200 genes, chromosome 10 makes up approximately 4.5% of the human genome. Several protein-coding genes, including those that encode chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, Cockayne syndrome, multiple endocrine neoplasia type 2 and porphyria. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0836R-CY3)
Fournisseur:
Bioss
Description:
Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11332R)
Fournisseur:
Bioss
Description:
Glutamic acid rich protein (GARP) is a soluble protein localized to the outer segments of the rod photoreceptor. It forms a subunit of cyclic nucleotide-gated (CNG) channels, nonselective cation channels, which play important roles in both visual and olfactory signal transduction. When associated with CNGA1, it is involved in the regulation of ion flow into the rod photoreceptor outer segment (ROS), in response to light-induced alteration of the levels of intracellular cGMP. There are 3 isoforms produced by alternative splicing. Isoform GARP2 is a high affinity rod photoreceptor phosphodiesterase (PDE6)-binding protein that modulates its catalytic properties; it is a regulator of spontaneous activation of rod PDE6, thereby serving to lower rod photoreceptor 'dark noise' and allowing these sensory cells to operate at the single photon detection limit. Defects in GARP are the cause of retinitis pigmentosa type 25 (RP25). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9331R)
Fournisseur:
Bioss
Description:
Progressive myoclonic epilepsy type 2 (EPM2), also called Lafora disease, is an autosomal recessive disease characterized by grand mal seizures and/or myoclonus at about 15 years of age. Rapid and severe mental deterioration follows, often with psychotic features. Survival is less than 10 years after onset. Starch-like, endoplasmic reticulum-associated polyglucosans, called Lafora bodies, can be observed in brain, muscle, liver and heart. One cause of Lafora disease is due to mutations in NHLRC1, the gene encoding Malin. Forty-nine different mutations in NHLRC1 have been shown to cause EPM2. Malin, also called NHL repeat-containing protein 1, is a single subunit E3 ubiquitin ligase, containing 6 NHL repeats and 1 RING-type zinc finger. Malin’s RING domain is responsible for its ability to mediate ubiquitination. Malin interacts with and polyubiquitinates Laforin, a protein also implicated in EPM2. Malin localizes to the endoplasmic reticulum and, to a lesser extent, in the nucleus. Malin is expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9503R)
Fournisseur:
Bioss
Description:
This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12361R-HRP)
Fournisseur:
Bioss
Description:
The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic å/∫ horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. FLRT1 (fibronectin leucine rich transmembrane protein 1) is a 646 amino acid single-pass type I membrane protein that contains one fibronectin type-III domain and ten LRR repeats. Expressed in kidney and brain, FLRT1 is thought to play a role in cell adhesion and receptor signaling. FLRT1 shares similarity with FLRT2 and FLRT3 and is subject to post-translational N-glycosylation. The gene encoding FLRT1 maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12333R-A647)
Fournisseur:
Bioss
Description:
ERMAP is a single-pass type one membrane protein that belongs to the immunoglobulin superfamily. Expressed in cord blood, fetal liver and adult bone marrow, ERMAP is thought to function as a cell adhesion molecule in erythroid cells and is responsible for expression of the Scianna/Radin (Sc/Rd) blood group antigen system. The Sc/Rd system is comprised of seven antigens that are present on the surface of red blood cells and have a variety of functions ranging from protein transport to cell adhesion. These seven blood antigens can differ in their expression within a population and may sometimes differ between mother and child. A fetus expressing different blood antigens than its mother may cause the mother to produce against the fetal blood. This condition is known as hemolytic disease of the newborn (HDN) and is characterized by jaundice, anemia and in some cases, infant death.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11468R-CY3)
Fournisseur:
Bioss
Description:
Nogo is an oligodendrocyte-specific member of the Reticulon family and is a component of CNS white matter that inhibits axon outgrowth, induces collapse of growth cones of chick dorsal root ganglion cells, and inhibits the spreading of 3T3 fibroblasts. Nogo is expressed by oligodendrocytes but not by Schwann cells and associates primarily with the endoplasmic reticulum. Nogo exists in three different splice forms, Nogo-A, -B and -C. NgBR (Nogo-B receptor), also known as nuclear undecaprenyl pyrophosphate synthase 1 homolog, is a 293 amino acid single-pass type I membrane protein that acts as a specific receptor for the amino-terminus of Nogo-B. Through this interaction, NgBR is involved in the regulation of vascular remodeling and angiogenesis. NgBR also enhances Niemann-Pick type C2 protein (NPC2) stabilization. Knockdown of NgBR mRNA leads to decreased NPC2 levels, which results in the hallmarks of NPC2 mutation: increased intracellular cholesterol accumulation and a loss of sterol sensing.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13628R-A488)
Fournisseur:
Bioss
Description:
The C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily consists of a variety of proteins that share a common protein fold and have diverse functions, including cell-cell signaling, cell adhesion, glycoprotein turnover and immune responses. CLEC-12A (C-type lectin domain family 12, member A), also known as CLL1, MICL, CLL-1 or DCAL-2, is a 275 amino acid single-pass type II membrane protein that contains one C-type lectin domain and belongs to the CTL/CTLD superfamily. Existing as multiple alternatively spliced isoforms that are expressed in neutrophils, eosinophils, monocytes and dendritic cells, CLEC-12A functions as a cell surface receptor that acts as a negative regulator of granulocyte and monocyte function and, via this activity, modulates signaling cascades. CLEC-12A is highly subject to post-translational glycosylation at its N-terminus and may also exist as a homodimer.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-13628R-HRP)
Fournisseur:
Bioss
Description:
The C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily consists of a variety of proteins that share a common protein fold and have diverse functions, including cell-cell signaling, cell adhesion, glycoprotein turnover and immune responses. CLEC-12A (C-type lectin domain family 12, member A), also known as CLL1, MICL, CLL-1 or DCAL-2, is a 275 amino acid single-pass type II membrane protein that contains one C-type lectin domain and belongs to the CTL/CTLD superfamily. Existing as multiple alternatively spliced isoforms that are expressed in neutrophils, eosinophils, monocytes and dendritic cells, CLEC-12A functions as a cell surface receptor that acts as a negative regulator of granulocyte and monocyte function and, via this activity, modulates signaling cascades. CLEC-12A is highly subject to post-translational glycosylation at its N-terminus and may also exist as a homodimer.
UOM:
1 * 100 µl
Fournisseur:
Biotium
Description:
This MAb recognizes a 27 kDa protein, identified as the p27Kip1, a cell cycle regulatory mitotic inhibitor. It is highly specific and shows no cross-reaction with other related mitotic inhibitors. In Western blotting of cell lysates from 7 human breast cancer cell lines (ZR75-1, ZR75-30, MCF-7, MDAMB453, T47D, CAL51, 734B), the antibody labels a single band corresponding to p27Kip1. It functions as a negative regulator of G1 progression and has been proposed to function as a possible mediator of TGF- induced G1 arrest. p27Kip1 is a candidate tumor suppressor gene. Reportedly, low p27 expression has been associated with unfavorable prognosis in renal cell carcinoma, colon carcinoma, breast carcinomas, non-small-cell lung carcinoma, hepatocellular carcinoma, multiple myeloma, and lymph node metastases in papillary carcinoma of the thyroid, as well as a more aggressive phenotype in carcinoma of the cervix.
Numéro de catalogue:
(BOSSBS-11468R-A488)
Fournisseur:
Bioss
Description:
Nogo is an oligodendrocyte-specific member of the Reticulon family and is a component of CNS white matter that inhibits axon outgrowth, induces collapse of growth cones of chick dorsal root ganglion cells, and inhibits the spreading of 3T3 fibroblasts. Nogo is expressed by oligodendrocytes but not by Schwann cells and associates primarily with the endoplasmic reticulum. Nogo exists in three different splice forms, Nogo-A, -B and -C. NgBR (Nogo-B receptor), also known as nuclear undecaprenyl pyrophosphate synthase 1 homolog, is a 293 amino acid single-pass type I membrane protein that acts as a specific receptor for the amino-terminus of Nogo-B. Through this interaction, NgBR is involved in the regulation of vascular remodeling and angiogenesis. NgBR also enhances Niemann-Pick type C2 protein (NPC2) stabilization. Knockdown of NgBR mRNA leads to decreased NPC2 levels, which results in the hallmarks of NPC2 mutation: increased intracellular cholesterol accumulation and a loss of sterol sensing.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6049R-A488)
Fournisseur:
Bioss
Description:
FGFRL1 is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between FGFRL1 and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11468R)
Fournisseur:
Bioss
Description:
Nogo is an oligodendrocyte-specific member of the Reticulon family and is a component of CNS white matter that inhibits axon outgrowth, induces collapse of growth cones of chick dorsal root ganglion cells, and inhibits the spreading of 3T3 fibroblasts. Nogo is expressed by oligodendrocytes but not by Schwann cells and associates primarily with the endoplasmic reticulum. Nogo exists in three different splice forms, Nogo-A, -B and -C. NgBR (Nogo-B receptor), also known as nuclear undecaprenyl pyrophosphate synthase 1 homolog, is a 293 amino acid single-pass type I membrane protein that acts as a specific receptor for the amino-terminus of Nogo-B. Through this interaction, NgBR is involved in the regulation of vascular remodeling and angiogenesis. NgBR also enhances Niemann-Pick type C2 protein (NPC2) stabilization. Knockdown of NgBR mRNA leads to decreased NPC2 levels, which results in the hallmarks of NPC2 mutation: increased intracellular cholesterol accumulation and a loss of sterol sensing.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9677R-A647)
Fournisseur:
Bioss
Description:
C19orf18 is a 215 amino acid single-pass type I membrane protein that is encoded by a gene located on human chromosome 19. Chromosome 19 consists of approximately 63 million bases and makes up over 2% of human genomic DNA. Chromosome 19 includes a diversity of interesting genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin superfamily members including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family, and Fcα receptors. Key genes for eye color and hair color also map to chromosome 19. Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes have been linked to chromosome 19. Translocations with chromosome 19 and chromosome 14 can be seen in some lymphoproliferative disorders and typically involve the proto-oncogene BCL3.
UOM:
1 * 100 µl
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