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Fournisseur:  Bioss
Description:   The cell division control protein cdc2, also known as cyclin dependent kinase 1 (Cdk1) or p34/cdk1, plays a key role in the control of the eukaryotic cell cycle, where it is required for entry into S phase and mitosis. Cdc2 exists as a complex with both cyclin A and cyclin B. The best characterised of these associations is the Cdc2 p34 cyclin B complex, which is required for the G2 to M phase transition. Activation of Cdc2 is controlled at several steps including cyclin binding and phosphorylation of threonine 161. However, the critical regulatory step in activating cdc2 during progression into mitosis appears to be dephosphorylation of Tyr15 and Tyr14. Phosphorylation at Tyr15 and inhibition of Cdc2 is carried out by WEE1 and MIK protein kinases while Tyr15 dephosphorylation and activation of Cdc2 is carried out by the cdc25 phosphatase. The isoform CDC2deltaT is found in breast cancer tissues. Furthermore, cdc2/Cdk1 is a key mediator of neuronal cell death in brain development and degeneration.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-12128R-A350)

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

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-11604R-A350)

Fournisseur:  Bioss
Description:   Na+/Cl- dependent neurotransmitter transporters are a superfamily of transmembrane proteins that contain 12 membrane spanning regions (1). Specifically, the highly hydrophobic Na+/Cl- dependent glycine transporters (GlyT) are crucial for the termination of neurotransmission at glycinergic synapses (2,3). Two different GlyT genes encode GlyT2 and GlyT1, which exists as two isoforms produced by alternative splicing of the same gene located on human chromosome 1p31.3 (3,4). The GlyT1 gene may be an early marker of neural development and encodes glia-specific transporter proteins (3). Although GlyT1 and GlyT2 are both expressed in the brain and spinal cord, each shows a unique pattern of expression (3,5,6). GlyT1 is found only in the white matter of the CNS, whereas GlyT2 is found in the gray matter of the CNS as well as in macrophages and mast cells in peripheral tissues (3,5). The anatomic distribution of GlyT2 mRNA suggests that glycine may act as a supraspinal neurotransmitter and may function as a chemical messenger outside the CNS (5).
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Na+/Cl- dependent neurotransmitter transporters are a superfamily of transmembrane proteins that contain 12 membrane spanning regions (1). Specifically, the highly hydrophobic Na+/Cl- dependent glycine transporters (GlyT) are crucial for the termination of neurotransmission at glycinergic synapses (2,3). Two different GlyT genes encode GlyT2 and GlyT1, which exists as two isoforms produced by alternative splicing of the same gene located on human chromosome 1p31.3 (3,4). The GlyT1 gene may be an early marker of neural development and encodes glia-specific transporter proteins (3). Although GlyT1 and GlyT2 are both expressed in the brain and spinal cord, each shows a unique pattern of expression (3,5,6). GlyT1 is found only in the white matter of the CNS, whereas GlyT2 is found in the gray matter of the CNS as well as in macrophages and mast cells in peripheral tissues (3,5). The anatomic distribution of GlyT2 mRNA suggests that glycine may act as a supraspinal neurotransmitter and may function as a chemical messenger outside the CNS (5).
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-2752R-A647)

Fournisseur:  Bioss
Description:   Brutons tyrosine kinase (BTK) is a member of the BTK/Tec family of cytoplasmic tyrosine kinases. Like other BTK family members, it contains a pleckstrin homology (PH) domain, Src homology SH3 and SH2 domains. BTK plays an important role in B cell development. Activation of B cells by various ligands is accompanied by BTK membrane translocation mediated by its PH domain binding to phosphatidylinositol-3,4,5-trisphosphate. The membrane located BTK is active and associated with transient phosphorylation of two tyrosine residues, Tyr551 and Tyr223. Tyr551 in the activation loop is transphosphorylated by the Src family tyrosine kinase, leading to autophosphorylation at Tyr223 within the SH3 domain, which is necessary for full activation. The activation of BTK is negatively regulated by PKC beta through phosphorylation of BTK at Ser180, which results in reduced membrane recruitment, transphosphorylation and subsequent activation. The PKC/BTK inhibitory signal is likely to be a key determinant of the B cell receptor signaling threshold to maintain optimal BTK activity.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
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:  Bioss
Description:   Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Forms transcriptional repressor complexes by associating with MAD, SIN3, YY1 and N-COR. Interacts in the late S-phase of DNA-replication with DNMT1 in the other transcriptional repressor complex composed of DNMT1, DMAP1, PCNA, CAF1. Deacetylates TSHZ3 and regulates its transcriptional repressor activity. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. May be involved in the transcriptional repression of circadian target genes, such as PER1, mediated by CRY1 through histone deacetylation. Involved in MTA1-mediated transcriptional corepression of TFF1 and CDKN1A.
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-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
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
Numéro de catalogue: (BOSSBS-9487R-A750)

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping to human chromosome 6. 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 histocompatibility 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.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9487R-A680)

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping to human chromosome 6. 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 histocompatibility 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.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9487R-A647)

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping to human chromosome 6. 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.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   LACE1 is a 481 amino acid protein that belongs to the AFG1 ATPase family. LACE1 is encoded by a gene mapping to human chromosome 6. 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.
UOM:  1 * 100 µl
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