2-Fluorophenyl+isothiocyanate
Catalog Number:
(10307-912)
Supplier:
Bioss
Description:
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 C1orf106 gene product has been provisionally designated C1orf106 pending further characterization.
Catalog Number:
(10329-740)
Supplier:
Bioss
Description:
Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development.
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:
(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:
(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:
(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:
(10261-426)
Supplier:
Bioss
Description:
ESET is a nuclear protein belonging to the histone-lysine methyltransferase family and to the Suvar3-9 subfamily. It is a highly conserved protein of 150 amino acids that has been implicated in chromatin structure modulation. ESET is excluded from cell nucleoli and areas of condensed chromatin and can associate with the nonpericentromeric regions of chromatin. The gene encoding for this protein, SETDB1, maps to chromosome 1q21. ESET is a histone methyltransferase, methylating Lys-9 of histone H3 and mutations within the SETDB1 gene abolishes its methyltransferase activity. This methylation acts as a tag for epigenetic transcriptional repression by rounding up HP1 proteins to methylated histones. ESET is widely expressed with highest levels found in testis.
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:
(10299-152)
Supplier:
Bioss
Description:
Golgin 245 is also known as p230, GCP2, GOLG or golgi autoantigen and is a 2,230 amino acid protein that is expressed as three isoforms. Golgin 245 is localized to the cytoplasm in cells and is a member of the golgin family, all of which are peripheral membrane proteins associated with the Golgi complex. Golgin 245 has a carboxyl-terminal GRIP domain, which attaches to the trans-Golgi network (TGN) and TGN-derived vesicles. It is thought that the interaction that takes place between golgin 245 and MACF1, which cross-links microtubules to the Actin cytoskeleton, allows proteins to be transported from the TGN to the cell periphery. against golgin 245 are associated with two chronic disorders known as Sjé°ƒren's syndrome and Hepatitis B.
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:
(10326-734)
Supplier:
Bioss
Description:
The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008].
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:
(10281-792)
Supplier:
Bioss
Description:
DAAM2 is a widely expressed 1,068 amino acid protein that contains one DAD domain, one FH1 domain, one FH2 domain and one GBD domain, through which it may play a role in Wnt/Frizzled-associated signaling events. The gene encoding DAAM2 maps to human chromosome 6, which contains 170 million base pairs and comprises nearly 6% of the human genome. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Additionally, Porphyria cutanea tarda, Parkinson's disease, Stickler syndrome and a susceptibility to bipolar disorder are all associated with genes that map to chromosome 6.
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:
(10242-832)
Supplier:
Bioss
Description:
Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D3/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex.
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.
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