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3-Picolyl+isothiocyanate+hydrobromide
Catalog Number:
(10303-338)
Supplier:
Bioss
Description:
TMEM176A is a 235 amino acid multi-pass membrane protein belonging to the TMEM176 family. The gene encoding GS188 maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
Catalog Number:
(10298-512)
Supplier:
Bioss
Description:
GMPPB is a 360 amino acid protein that belongs to the transferase hexapeptide repeat family and is involved in protein modification pathways. Functioning as a GDP-mannose pyrophosphorylase, GMPPB enzymatically catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose and a free phosphate, a reaction that is involved in the production of N-linked oligosaccharides. Defects in the gene encoding GMPPB that cause errors in the glycosylation pathway may lead to congenital disorders of glycosylation (CDG). CDGs are multisystemic diseases that often involve both the central and peripheral nervous systems and are often characterized by endocrine and coagulation disorders. GMPPB is expressed as two isoforms due to alternative splicing events.
Catalog Number:
(10245-034)
Supplier:
Bioss
Description:
This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Catalog Number:
(10290-252)
Supplier:
Bioss
Description:
The rTS gene codes for a naturally occurring antisense RNA to thymidylate synthase (TS) mRNA and two proteins (rTSalpha and rTSbeta (also known as ENOSF1)). The role of the major protein product of rTS, ENOSF1 has been linked to alterations in TS protein expression, but the precise function of ENOSF1 is unknown. Expression of rTS is associated with growth arrest in cell culture, but its overexpression has been noted in cells resistant to anticancer drugs such as 5-fluorouracil and methotrexate. Studies have shown that increased expression of ENOSF1 is associated with the decrease in TS protein expression due to production of novel, diffusible signal molecules.
Catalog Number:
(10327-218)
Supplier:
Bioss
Description:
c-Kit is a transmembrane tyrosine kinase encoded by the cKit proto oncogene. c-Kit acts to regulate a variety of biological responses including cell proliferation, apoptosis, chemotaxis and adhesion. Ligand binding to the extracellular domain leads to autophosphorylation on several tyrosine residues within the cytoplasmic domain, and activation. Mutations in c-Kit have been found to be important for tumor growth and progression in a variety of cancers including mast cell diseases, gastrointestinal stromal tumor, acute myeloid leukemia, Ewing sarcoma and lung cancer. Phosphorylation at tyrosine 721 of c-Kit allows binding and activation of PI3 kinase.
Catalog Number:
(10238-068)
Supplier:
Bioss
Description:
The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency.[provided by RefSeq, Nov 2009].
Catalog Number:
(10283-618)
Supplier:
Bioss
Description:
The apolipoprotein L gene family maps to a region on chromosome 22 and encodes six highly homologous proteins designated apoL-I, apoL-II, apoL-III, apoL-IV, apoL-V and apoL-VI, all of which function as components of plasma lipoproteins. ApoL-V (apolipoprotein L-V), also known as APOL5, is a 433 amino acid protein that localizes to the cytoplasm and belongs to the apolipoprotein L family. Expressed in a variety of tissues including testis, stomach, uterus and skeletal muscle, apoL-V is thought to affect the movement of lipids in the cytoplasm and may allow the binding of lipids to organelles. Like other members of the apolipoprotein L family, apoL-V is thought to be involved in the development of schizophrenia.
Catalog Number:
(10329-668)
Supplier:
Bioss
Description:
High Mobility Group (HMG) proteins, a group of chromosomal proteins common to all eukaryotes, bind DNA in a non-sequence-specific fashion to promote chromatin function and gene regulation, helping with transcription, replication, recombination, and DNA repair. HMGB4 is HMG2-like, isoform 2, high-mobility group box 4. This gene can be found on Chromosome 1. HMGB4 contains two HMG-box regions, and is found in a variety of eukaryotic chromosomal proteins. HMGB proteins are phosphorylated to various extents. The existence of differentially modified forms increases the number of distinct HMGB protein variants in plant chromatin that may be adapted to certain functions.
Catalog Number:
(10277-980)
Supplier:
Bioss
Description:
PHC1 is a 1,004 amino acid nuclear protein that is a component of the PcG multiprotein PRC1 complex. Specifically, the PcG PRC1 complex modifies histones, remodels chromatin and mediates monoubiquination of Histone H2A. Other constituent proteins involved in the PcG PRC1 complex are Mel-18, Bmi-1, M33, MPc2, MPc3, RING1, Ring1b, as well as several others. Existing as a homodimer, PHC1 contains one FCS-type zinc finger and a SAM (sterile alpha motif) domain. PHC1 is encoded by a gene located on human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome.
Catalog Number:
(10291-048)
Supplier:
Bioss
Description:
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.
Catalog Number:
(10253-046)
Supplier:
Bioss
Description:
EVC is an autosomal skeletal dysplasia caused by mutations in the EVC and EVC2 genes. Found in developing ribs, heart, kidney and lung, the EVC gene is responsible for normal development of the face, limbs, teeth and nails. The protein expressed by the EVC gene is an intracellular component of the hedgehog signal pathway that contains a leucine zipper and transmembrane domain. Defects in the EVC gene can lead to short-limb dwarfism, ectodermal dysplasia and cardiac anomalies such as irregular atrioventricular septum development. Additionally, the EVC gene has been implicated in Weyers acrodental dysostosis, an autosomal dominant disease characterized by facial abnormalities and limb defects.
Catalog Number:
(10274-908)
Supplier:
Bioss
Description:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008].
Catalog Number:
(10263-644)
Supplier:
Bioss
Description:
Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Catalog Number:
(10298-890)
Supplier:
Bioss
Description:
GNS is a 552 amino acid lysosomal enzyme that hydrolyzes the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of keratan sulfate and heparan sulfate. A member of the sulfatase family, GNS assists in the catabolism of heparin, and binds calcium as a cofactor. GNS deficiency results in an autosomal recessive lysosomal storage disorder known as mucopolysaccharidosis type IIID (Sanfilippo D syndrome), which is characterized by mild somatic disease and severe degeneration of the central nervous system. Subject to post-translational internal peptidase cleavage, GNS is encoded by a gene mapping to human chromosome 12q14.2 and mouse chromosome 10 D2.
Catalog Number:
(10234-942)
Supplier:
Bioss
Description:
Human IgA (immunoglobulin A) is a glycosylated protein of 160 kDa and is produced as a monomer or as a J chain linked dimer. Monomeric IgA constitutes 5-15 % of the serum immunoglobulins whereas dimeric IgA is localized to mucosa surfaces such as saliva, gastrointestinal secretion, bronchial fluids and milk. Mucosal IgA plays a major role in host defence by neutralising infectious agents at mucosal surfaces. The production is usually local and antigen specific IgA producing B cells can be found in regions under the lamina propria where they mature into dimeric IgA producing plasma cells. IgA deficiency is the most common immunodeficiency that may affect both serum and mucosal produced IgA.
Catalog Number:
(10248-612)
Supplier:
Bioss
Description:
Neuroligins are a family of plasma membrane proteins that possess an N-terminal hydrophobic domain, a large esterase homology domain, a single transmembrane region, a short cytoplasmic domain, and an EF-hand binding domain (1,2). Members of the neuroligin family include Neuroligin 1, Neuroligin 2 and Neuroligin 3. Neuroligins are expressed in excitatory neuronal synaptic clefts. Neuroligins play a role in the formation and remodeling of CNS synapses by binding to b-neurexins, a family of neuronal cell surface proteins. Neuroexin 1b binds to the EF-hand domain of Neuroligin 1 and requires calcium ion. Neuroligins also bind to PSD-95, which may recruit ion channels and neurotransmitter receptors to the synapses.
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