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Fournisseur:  Bioss
Description:   Encoding over 1,100 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 C12orf52 gene product has been provisionally designated C12orf52 pending further characterization.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-0097R-A750)

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
Numéro de catalogue: (BOSSBS-0097R-CY5.5)

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-0097R-A647)

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-11722R-A680)

Fournisseur:  Bioss
Description:   Neural crest cell migration to the third and fourth pharyngeal pouches is a critical step in the structural formation of organs that are affected in DiGeorge syndrome. DGCR6 (DiGeorge syndrome critical region 6) is a nuclear protein that plays a role in neural crest cell migration and is located at the DiGeorge syndrome critical region (DGCR) on chromosome 22. Expressed ubiquitously with highest levels in heart, liver and skeletal muscle, DGCR6 shares high homology with the Drosophila gonadal (gdl) protein and with human Laminin 1, both of which are involved in early tissue development. The gene encoding DGCR6, along with other DGCR genes, is deleted in DiGeorge syndrome; a developmental disorder characterised by improper facial, cardiac and palate formation. Upregulation of DGCR6 is implicated in lung and colon adenocarcinomas, as well as in Burkitt lymphoma and lymphocytes transformed by EBV. Due to a duplication of the ancestral DGCR6 locus, there are two functional, highly homologous copies of the DGCR6 gene (designated DGCR6 and DGCR6L) on chromosome 22.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11644R-CY5)

Fournisseur:  Bioss
Description:   Members of the calsyntenin protein family are localized to the post-synaptic membrane of exicitatory central nervous system (CNS) synapses. Calsyntenin-1, also known as CSTN1, PIK3CD, Alzheimer-related cadherin-like protein, non-classical cadherin XB31alpha, KIAA0911, ALC-ALPHA, alcalpha1, alcalpha2 or FLJ32258, is a 981 amino acid single-pass type I membrane protein that localizes to the membrane of endoplasmic reticulum, Golgi apparatus, cell projections and postsynaptic cells. Expressed in brain, calsyntenin-1 is also found at lower levels in placenta, skeletal muscle, heart and kidney. Calsyntenin-1 binds synaptic Ca2+ with its cytoplasmic domain and plays a role in extracellular proteolysis. Calsyntenin-1 is also known to form a complex with X11 Beta and APP to suppress the metabolic cleavage of APP, and docks vesicular cargo to KLC1. Calsyntenin-1 may be related to the development or progression of Alzheimer’s disease, and two calsyntenin-1 isoforms are produced as a result of alternative splicing events.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   In eukaryotic cells, selective breakdown of cellular proteins is ensured by two distinct pathways, ubiquitination and degradation by the 26S proteasome. At specific stages of development, embryo- and tissue-specific components of the 26S proteasome are formed by developmentally regulated alternative splicing, including Rpn10a through Rpn10e (also designated pUb-R2 through pUb-R5). The pUb-R2 subunit, originally identified as S5a, is ubiquitously expressed and may perform proteolysis constitutively in a wide variety of cells. p44S10 is a highly conserved proteasome regulatory subunit that is expressed in heart, liver, skeletal muscle and pancreas. In addition to normal tissue expression, p44S10 is also expressed in several melanoma cell lines, such as MCF-7, 451Lu and WM164. Since forced expression of p44S10 in radial growth phase melanoma cells results in an increase in cellular proliferation, p44S10 may represent a potential link between regulation of proteasome activity and tumor cell proliferation in vivo.
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:  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-15214R-A350)

Fournisseur:  Bioss
Description:   C6orf115 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 C6orf115 gene product has been provisionally designated C6orf115 pending further characterization.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Required for organisation of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organisation at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-15330R-CY7)

Fournisseur:  Bioss
Description:   C9orf5 (chromosome 9 open reading frame 5), also known as CG2, is a 911 amino acid multi-pass membrane protein that is widely expressed and exists as four alternatively spliced isoforms. The gene encoding C9orf5 maps to human chromosome 9, which consists of about 145 million bases, represents 4% of the human genome 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, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. 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-8562R-A555)

Fournisseur:  Bioss
Description:   The gene encoding the Mixed-Lineage Leukemia (MLL) proteins is located on chromosome 11q23. Chromosomal translocations involving band 11q23 result in rogue activator proteins that are associated with approximately 10% of patients with acute lymphoblastic leukemia (ALL) and 5% of patients with acute myeloid leukemia (AML). Most patients affected are less than 1 year of age. MLLT11, also known as mixed-lineage leukemia translocated to 11 or AF1q, is a 90 amino acid MLL fusion partner. Based on the expression patterns of MLLT11, it is thought that MLLT11 plays a role in leukemogenesis and, specifically, the progression of acute monocytic leukemia (AML). Also, expressed in embryonic brain cortex, MLLT11 is upregulated during neuronal differentiation and is thought to play a role in the development of the central nervous system. Finally, MLLT11 has been shown to be differentially expressed in highly metastatic cells, in comparison with non-metastatic parent cells. Such findings suggest a role of MLLT11 in tumorigenesis.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12233R-A555)

Fournisseur:  Bioss
Description:   Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Kruppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF131 (Zinc finger protein 131) is a 623 amino acid nuclear protein that contains one BTB (POZ) domain and six C2H2-type zinc fingers. With predominant expression found in brain, it is likely that ZNF131 plays a role as a transcription regulator during development and organogenesis of the adult central nervous system. ZNF131 also represses ER Alpha (Estrogen receptor alpha)-mediated transactivation by interrupting ER?binding to the estrogen-response element. There are two isoforms of ZNF131 that are produced as a result of alternative splicing events.
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.
Numéro de catalogue: (BOSSBS-15318R-A488)

Fournisseur:  Bioss
Description:   C9orf169 (chromosome 9 open reading frame 169) is a 423 amino acid single-pass membrane protein that belongs to the clpA/clpB family and torsin subfamily. The gene encoding C9orf169 maps to human chromosome 9q34.3. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. 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
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