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Numéro de catalogue: (BOSSBS-9747R-A350)

Fournisseur:  Bioss
Description:   Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD20A (ankyrin repeat domain-containing protein 20A) is an 823 amino acid protein that contains five ANK repeats. The gene encoding ANKRD20A maps to chromosome 9, which consists of about 145 million bases and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and familial dysautonomia are associated with chromosome 9. Also, chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9747R-A680)

Fournisseur:  Bioss
Description:   Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD20A (ankyrin repeat domain-containing protein 20A) is an 823 amino acid protein that contains five ANK repeats. The gene encoding ANKRD20A maps to chromosome 9, which consists of about 145 million bases and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterised by harmful vascular defects, and familial dysautonomia are associated with chromosome 9. Also, chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukaemias.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Closely related homeobox proteins, MOX-1 and MOX-2, belong to a family of nonclustered, diverged homeobox genes that are expressed in overlapping patterns in the paraxial mesoderm and its derivatives. MOX-1 and MOX-2 function transiently in the formation of mesodermal and mesenchymal derivatives. MOX-1 and MOX-2 are implicated in the early steps of mesoderm formation during gastrulation. In addition, the MOX proteins are also involved in somatic differentiation. Significantly, MOX-1 associates more strongly with Pax-1, whereas MOX-2 preferentially associates with Pax-3. Specifically, expression of MOX-2 (also known as mesenchyme homeobox 2 or GAX), has been shown to be critical in axial skeleton development. MOX-2 is not needed for the migration of myogenic precursors into the limb bud, but it is essential for normal appendicular muscle formation and for the normal regulation of myogenic genes. MOX-2 is expressed in placental tissue. The human MEOX2 gene maps to chromosome 7p21.1 and encodes the MOX-2 protein. Mutations in the gene may be involved in craniofacial and/or skeletal abnormalities.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The UNC5H family of proteins act as transmembrane receptors for netrin-1 and play a crucial role in axon guidance and migration of neural cells. In fact, UNC5H receptors express widely in cells that migrate, where they bind the G protein G Alpha 1-2 to inhibit G protein signaling. Additionally, UNC5H receptors induce apoptosis when cleaved by a caspase, producing an intracellular fragment containing a death domain, but this activity is blocked by the binding of netrin-1. The expression of UNC5H receptors is down-regulated in multiple cancers, including colorectal, breast, ovary, uterus, stomach, lung, and kidney cancers. Hence, in the absence of netrin-1, UNC5H receptors act as tumor suppressors by inhibiting anchorage-independent growth and invasion, but mutation of these receptors provides a potential mechanism for tumorigenicity. UNC5H2, also designated unc-5 homolog B or p53-regulated receptor for death and life protein 1 (p53RDL1) is highly expressed in brain with lower levels of expression observed in developing lung, cartilage, kidney and hematopoietic and immune tissues.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15213R-A680)

Fournisseur:  Bioss
Description:   C6orf106 is a Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. 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. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf106 gene product has been provisionally designated C6orf106 pending further characterization.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15213R-A750)

Fournisseur:  Bioss
Description:   C6orf106 is a Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. 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. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf106 gene product has been provisionally designated C6orf106 pending further characterization.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9946R-A680)

Fournisseur:  Bioss
Description:   Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf29 gene product has been provisionally designated C12orf29 pending further characterisation.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-3047R)

Fournisseur:  Bioss
Description:   This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15217R-A647)

Fournisseur:  Bioss
Description:   C6orf130 is making up nearly 6% of the human genome, chromosome 6 contains around 1200 genes within 170 million base pairs of sequence. 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. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf130 gene product has been provisionally designated C6orf130 pending further characterisation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15215R-A350)

Fournisseur:  Bioss
Description:   C6orf123 is a Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. 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. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6. The C6orf123 gene product has been provisionally designated C6orf123 pending further characterization.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The serine proteinase inhibitors (serpins) compose a superfamily of proteins with a diverse set of functions, including the control of blood coagulation, complement activation, programmed cell death and development. Serpins are secreted glycoproteins that contain a stretch of peptide that mimics a true substrate for a corresponding serine protease. The monocyte/neutrophil elastase inhibitor gene, SERPINB1, belongs to the Ov-serpin family (ovalbumin-related serpins). Human SerpinB1, also designated monocyte/neutrophil elastase inhibitor (M/NEI) or leukocyte elastase inhibitor (LEI), is a cytoplasmic protein which acts as a fast-acting stoichiometric proteinase inhibitor that regulates the activity of neutrophil elastase (NE), cathepsin-G and proteinase-3. There are four homologous genes in mouse designated SerpinB1a, SerpinB1b, SerpinB1c and the pseudogene, Serpinb1-ps1. The three protein-coding genes share significant sequence identity, however SerpinB1a (also designated EIA) has been characterized as the functional ortholog of human SerpinB1.
UOM:  1 * 100 µl
Fournisseur:  Biotium
Description:   Recognizes a 47-55 kDa-tumor suppressor protein, identified as Wilm's Tumor (WT1) protein. The antibody reacts with all isoforms of the full-length WT1 and also identifies WT1 lacking exon 2-encoded amino acids, frequently found in subsets of sporadic Wilm s tumors.WT1, a sporadic and familial pediatric kidney tumor, is genetically heterogeneous. Wilm s tumor is associated with mutations of WT1, a zinc-finger transcription factor that is essential for the development of the metanephric kidney and the urogenital system. The WT1 gene is normally expressed in fetal kidney and mesothelium, and its expression has been suggested as a marker for Wilm s tumor and mesothelioma. WT1 protein has been identified in proliferative mesothelial cells, malignant mesothelioma, ovarian carcinoma, gonadoblastoma, nephroblastoma, and desmoplastic small round cell tumor. Lung adenocarcinomas rarely stain positive with this antibody. WT1 protein expression in mesothelial cells has become a reliable marker for the diagnosis of mesotheliomas.
Fournisseur:  Biotium
Description:   Recognizes a 47-55 kDa-tumor suppressor protein, identified as Wilm's Tumor (WT1) protein. The antibody reacts with all isoforms of the full-length WT1 and also identifies WT1 lacking exon 2-encoded amino acids, frequently found in subsets of sporadic Wilm s tumors.WT1, a sporadic and familial pediatric kidney tumor, is genetically heterogeneous. Wilm s tumor is associated with mutations of WT1, a zinc-finger transcription factor that is essential for the development of the metanephric kidney and the urogenital system. The WT1 gene is normally expressed in fetal kidney and mesothelium, and its expression has been suggested as a marker for Wilm s tumor and mesothelioma. WT1 protein has been identified in proliferative mesothelial cells, malignant mesothelioma, ovarian carcinoma, gonadoblastoma, nephroblastoma, and desmoplastic small round cell tumor. Lung adenocarcinomas rarely stain positive with this antibody. WT1 protein expression in mesothelial cells has become a reliable marker for the diagnosis of mesotheliomas.
Numéro de catalogue: (BOSSBS-12128R-CY5)

Fournisseur:  Bioss
Description:   Acid sensing ion channel ASIC1 is present in brain as a 4.3-kb transcript with localization to rat dorsal root ganglia. In situ hybridization of rat brain suggests that ASIC1 is most abundant in the main olfactory bulb, cerebral cortex, hippocampal formation, habenula, basolateral amygdaloid nuclei and cerebellum. ASIC1 and H+-gated currents may contribute to the development of fear and anxiety. ASIC2, also designated amiloride-sensitive cation channel 1, neuronal (ACCN1), mammalian degenerin, BNAC1 (MDEG) and brain Na+ channel 1, mediates the normal detection of light touch. ASIC2 mRNA is abundant in brain, specifically in neurons. ASIC2 is expressed as 2.7- and 3.7-kb transcripts in brain and spinal cord tissues. ASIC3, also designated SLNAC1 and TNaC1, mediates detection of lasting pH changes and is involved in modulating moderate- to high-intensity pain sensation. ASIC4, also designated ACCN4 and BNAC4, is abundant in pituitary gland and is also present in the inner ear.
UOM:  1 * 100 µl
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