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Numéro de catalogue: (BOSSBS-9747R-A555)

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-15297R-A680)

Fournisseur:  Bioss
Description:   C8orf58 (chromosome 8 open reading frame 58) is a 365 amino acid protein that exists as two alternatively spliced isoforms, which are encoded by a gene that maps to human chromosome 8p21. Consisting of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and are typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9990R-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's 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-9367R-A488)

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 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
Fournisseur:  Biotium
Description:   There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypo-phosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants, which encode the same protein, have been identified for this gene.
Fournisseur:  Biotium
Description:   There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypo-phosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants, which encode the same protein, have been identified for this gene.
Fournisseur:  Biotium
Description:   There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypo-phosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants, which encode the same protein, have been identified for this gene.
Fournisseur:  Biotium
Description:   Recognizes a protein of 80 kDa-90 kDa, identified as CD36 (Workshop IV; Code P-26). Its epitope maps between aa155-183. It is expressed on platelets, monocytes and macrophages, microvascular endothelial cells, erythrocyte precursors, mammary epithelial cells, and some macrophage derived dendritic cells. CD36 acts as a receptor for thrombospondin (TSP), collagen types I, IV and V, P. falciparum malaria-infected erythrocytes, and sickle erythrocytes. It also functions as a scavenger receptor, mediating macrophage uptake of oxidized low-density lipoprotein (LDL) and recognition of apoptotic polymorphonuclear leukocytes (PMN). CD36 plays a role in platelet aggregation, macrophage foam cell development, inflammation, and the tissue ischemia observed in sickle cell disease and cerebral malaria. Note that 1-4% of Japanese and East Asia population lack CD36. This MAb blocks adhesion of P. falciparum parasitized red blood cells to CD36 and strongly inhibits collagen-induced platelet aggregation.

Fournisseur:  Bioss
Description:   Cerebellin (CER), which was originally isolated from rat cerebellum, is a hexadecapeptide derived from a larger precursor called Cerebellin 1, also designated precerebellin 1 or Cbln1. Four propeptides, Cerebellin 1, Cerebellin 2 (Cbln2), Cerebellin 3 (Cbln3) and Cerebellin 4 (Cbln4), comprise the precerebellin subfamily within the C1q protein family. Cerebellin family members act as transneuronal regulators of synapse development and synaptic plasticity in various brain regions. Cerebellin and its metabolite, des-Ser(1)Cer, are also expressed in several extra-cerebellar tissues, including adrenal gland. Cerebellin 1, 2 and 3 assemble into homomeric and heteromeric complexes, thereby influencing each other’s degradation and secretion. Cerebellin 3 is not able to form homomeric complexes, and can only be secreted upon forming a heteromeric complex with Cerebellin 1. Decreased concentrations of Cerebellin have been found in the brain of patients with olivopontocerebellar atrophy (OPCA) and Shy-Drager syndrome, suggesting a role for Cerebellin in the pathology of these diseases.
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
Numéro de catalogue: (BOSSBS-9367R-A647)

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
Numéro de catalogue: (BOSSBS-9950R-A750)

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 C12orf50 gene product has been provisionally designated C12orf50 pending further characterisation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11644R-CY7)

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
Numéro de catalogue: (BOSSBS-9747R-A750)

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
Numéro de catalogue: (BOSSBS-3047R-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
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