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3-Bromophenyl+isothiocyanate
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3-Bromophenyl+isothiocyanate
Catalog Number:
(10259-754)
Supplier:
Bioss
Description:
ATP13A2 is a 1,180 amino acid multi-pass membrane protein that belongs to the P5 subfamily of ATPases which play an important role in the transportation of inorganic cations. Expressed as multiple alternative spliced isoforms, ATP13A2 functions to catalyze the conversion of ATP to ADP and a free phosphate, thereby participating in the active transport of ions across cellular membranes. Defects in the gene encoding ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS), a rare hereditary type of Parkinson’s disease that exhibits juvenile onset and is characterized by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
Catalog Number:
(10233-824)
Supplier:
Bioss
Description:
The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This interaction at the cytoplasmic membrane is crucial to the function of this protein, which may be involved in neuronal growth-cone guidance. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. Alternative splicing of the end of this gene results in three products of undetermined function.
Catalog Number:
(10272-714)
Supplier:
Bioss
Description:
The P2X receptor family is comprised of ligand-gated ion channels that allow for the increased permeability of calcium into the cell in response to extracellular ATP. The seven P2X receptors, P2X1-P2X7, form either homomeric or heteromeric channels or both. They are characterized by intracellular amino- and carboxy-termini. P2X receptors are expressed in a wide variety of tissues, including neurons, prostate, bladder, pancreas, colon, testis and ovary. The major function of the P2X receptors is to mediate synaptic transmissions between neurons and to other tissues via the binding of extracellular ATP, which acts as a neurotransmitter. The P2X receptors may be involved in the onset of necrosis or apoptosis after prolonged exposure to high concentrations of extracellular ATP.
Catalog Number:
(10287-266)
Supplier:
Bioss
Description:
The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009].
Catalog Number:
(10253-194)
Supplier:
Bioss
Description:
Increase in fetal surfactant synthesis and lung maturity is caused by the glucocorticoidal induction of enzymes required for phosphatidylcholine synthesis towards the end of gestation (1). The regulation of gestational age-dependent induction of phosphatidylcholine synthesis by glucocorticoids is still unclear (1). The rate-controlling enzyme in the phosphatidylcholine biosynthetic pathway is CTP-phosphocholine cytidylyltransferase A (CCT A) (2–4). In cultured eukaryotic cells, this enzyme is essential for survival (3). The alpha isoform is located in the nucleus and is regulated by reversible phosphorylation and membrane association (3). There is significant identity between the alpha-helical membrane-binding domains of CCT A and soybean oleosin (2). Expressed CCT A has lipid-dependent cytidylyltransferase activity (5). The gene which encodes CCT A maps to human chromosome 3q (4).
Catalog Number:
(10263-586)
Supplier:
Bioss
Description:
Olfactory receptors interact with odorant molecules in the nose to initiate a neuronal response that leads to the perception of smell. While they share a seven transmembrane domain structure with many neurotransmitter and hormone receptors, olfactory receptors are responsible for the recognition and transduction of odorant signals. OR10A2 (olfactory receptor 10A2) and OR10A5 (olfactory receptor 10A5) are multi-pass membrane proteins that belong to the G-protein coupled receptor 1 family and are encoded by genes that map to human chromosome 11p15.4. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that map to chromosome 11.
Catalog Number:
(10285-914)
Supplier:
Bioss
Description:
Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine (1). GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies (2). The dyskerin gene maps to chromosome Xq28 (3). Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC) (4). DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa. The GAR1 gene maps to chromosome 4q25 (5,6). The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein (2,7).
Catalog Number:
(10287-346)
Supplier:
Bioss
Description:
The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009].
Catalog Number:
(10276-982)
Supplier:
Bioss
Description:
TIS11B is a member of the tristetraprolin family. Tristetraprolin (TTP), or TIS11, is a zinc-binding protein encoded by the immediate-early response gene, Zfp-36. TIS11B, a relative of TTP, localizes to the nucleus and may function as a transcription factor involved in regulating the growth factor response. It is an evolutionarily conserved protein containing two C3H1-type zinc fingers and a repeating cys-his motif. TIS11B is an mRNA binding protein and is known to interact with the 3’-untranslated region of VEGF mRNA, thereby decreasing its stability. This suggests that TIS11B is a potential target in antiangiogenic therapy. In addition, TIS11B may also be an important regulator of myogenesis, as its expression is upregulated during murine myoblast differentiation.
Catalog Number:
(10301-836)
Supplier:
Bioss
Description:
The downstream of kinase family (Dok1-7) are members of a class of “docking†proteins that include the tyrosine kinase substrates IRS-1 and Cas, which contain multiple tyrosine residues and putative SH2 binding sites. Based on their similarities, the Dok family of proteins can be divided into three subgroups: Dok-1/2/3, Dok-4/5/6 and Dok-7. Through its interaction with muscle-specific receptor kinase (MuSK), Dok-7 is crucial for neuromuscular synaptogenesis and for MuSK activation. Mice lacking Dok-7 do not form neuromuscular synapses nor acetylcholine receptor clusters. Mutations in the Dok-7 gene can cause congenital myasthenic syndromes (CMA) — recessively inherited disorders characterized by muscle weakness.
Catalog Number:
(10255-856)
Supplier:
Bioss
Description:
BMAL2 is a 636 amino acid protein that localizes to the nucleus and contains one bHLH (basic helix-loop-helix) domain, one PAC (PAS-associated C-terminal) domain and two PAS (PER-ARNT-SIM) domains. Expressed at high levels in placenta and brain and at lower levels in liver, thymus, heart, lung and kidney, BMAL2 functions as a component of the circadian core oscillator, which includes a variety of proteins that work in tandem to activate the transcription of target genes. More specifically, BMAL2, when functioning as a component of the core oscillator, binds to the E-box element (3'-CACGTG-5') of target DNA, thus inducing transcription. Multiple isoforms of BMAL2 exist due to alternative splicing events.
Catalog Number:
(10241-052)
Supplier:
Bioss
Description:
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1.
Catalog Number:
(10301-284)
Supplier:
Bioss
Description:
TANK was initially identified as a novel TRAF-interacting protein that regulated TRAF-mediated signal transduction. Specifically, ligand binding by surface receptors in the tumor necrosis factor (TNF) receptor and Toll/interleukin-1 (IL-1) receptor families lead to the formation of a TRAF/TANK complex that mediates the activation of the transcription factor NF-kappaB. TANK is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, this protein can block TRAF2 binding to LMP1, the Epstein Barr virus transforming protein, and inhibit LMP1-mediated NF kappa B activation.
Catalog Number:
(10299-926)
Supplier:
Bioss
Description:
G protein-coupled receptors (GPRs), also known as seven transmembrane receptors, heptahelical receptors or 7TM receptors, comprise a superfamily of proteins that play a role in many different stimulus-response pathways. G protein coupled receptors translate extracellular signals into intracellular signals (G protein activation) and they respond to a variety of signaling molecules, such as hormones and neurotransmitters. GPR146 (G protein-coupled receptor 146), also known as PGR8, is a 333 amino acid multi-pass transmembrane protein that belongs to the G-protein coupled receptor 1 family. Characterized as an orphan receptor for which its endogenous ligand has yet to be identified, GPR146 is thought to play a role in signaling events throughout the cell.
Catalog Number:
(10298-818)
Supplier:
Bioss
Description:
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010].
Catalog Number:
(10272-060)
Supplier:
Bioss
Description:
Glutamate receptors mediate most excitatory neurotransmission in the brain and play an important role in neural plasticity, neural development and neurodegeneration. Ionotropic glutamate receptors are categorized into NMDA receptors and kainate/AMPA receptors, both of which contain glutamate-gated, cation-specific ion channels. Kainate/AMPA receptors are co-localized with NMDA receptors in many synapses and consist of the structurally related subunits GluR-1 to -7, KA1 and KA2. KA1 (also designated EEA1) and KA2 (also designated EEA2) form heteromeric receptors with GluR subunits when coexpressed, forming ion channels with various properties. The kainate/AMPA receptors are primarily responsible for the fast excitatory neuro-transmission by glutamate.
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