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Codice catalogo: (BOSSBS-11012R-A680)
Fornitore: Bioss
Codice articolo fornitore: BS-11012R-A680
Codice articolo locale: BOSSBS-11012R-A680
Descrizione: Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene. The FAM98 gene product has been provisionally designated FAM98 pending further characterisation.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-11012R-A647)
Fornitore: Bioss
Codice articolo fornitore: BS-11012R-A647
Codice articolo locale: BOSSBS-11012R-A647
Descrizione: Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene. The FAM98 gene product has been provisionally designated FAM98 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-3451R-A750)
Fornitore: Bioss
Codice articolo fornitore: BS-3451R-A750
Codice articolo locale: BOSSBS-3451R-A750
Descrizione: This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyses the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localised to chromsome 17 and the beta gene is localised to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9626R-A750)
Fornitore: Bioss
Codice articolo fornitore: BS-9626R-A750
Codice articolo locale: BOSSBS-9626R-A750
Descrizione: RPUSD2, is a 545 amino acid member of the pseudouridine synthase rluA family and is encoded by a gene that is located on chromosome 15. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-11614R-CY5)
Fornitore: Bioss
Codice articolo fornitore: BS-11614R-CY5
Codice articolo locale: BOSSBS-11614R-CY5
Descrizione: This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-0538R-CY5.5)
Fornitore: Bioss
Codice articolo fornitore: BS-0538R-CY5.5
Codice articolo locale: BOSSBS-0538R-CY5.5
Descrizione: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010].
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-11614R-CY3)
Fornitore: Bioss
Codice articolo fornitore: BS-11614R-CY3
Codice articolo locale: BOSSBS-11614R-CY3
Descrizione: This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-7696R-A750)
Fornitore: Bioss
Codice articolo fornitore: BS-7696R-A750
Codice articolo locale: BOSSBS-7696R-A750
Descrizione: This gene encodes a protein that localises to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-8580R-A680)
Fornitore: Bioss
Codice articolo fornitore: BS-8580R-A680
Codice articolo locale: BOSSBS-8580R-A680
Descrizione: GRAMD3 is a 432 amino acid protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 5q23.2. With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-8580R)
Fornitore: Bioss
Codice articolo fornitore: BS-8580R
Codice articolo locale: BOSSBS-8580R
Descrizione: GRAMD3 is a 432 amino acid protein that contains one GRAM domain and is encoded by a gene that maps to human chromosome 5q23.2. With 181 million base pairs encoding around 1,000 genes, chromosome 5 is about 6% of human genomic DNA. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-13180R)
Fornitore: Bioss
Codice articolo fornitore: BS-13180R
Codice articolo locale: BOSSBS-13180R
Descrizione: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The FLJ11184 gene product has been provisionally designated FLJ11184 pending further characterization.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-8020R)
Fornitore: Bioss
Codice articolo fornitore: BS-8020R
Codice articolo locale: BOSSBS-8020R
Descrizione: This gene belongs to the chemokine like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-4140R-CY5)
Fornitore: Bioss
Codice articolo fornitore: BS-4140R-CY5
Codice articolo locale: BOSSBS-4140R-CY5
Descrizione: This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-8226R)
Fornitore: Bioss
Codice articolo fornitore: BS-8226R
Codice articolo locale: BOSSBS-8226R
Descrizione: FAM161B is a 647 amino acid protein that belongs to the FAM161 family. The gene that encodes FAM161B consists of approximately 16,413 bases and maps to human chromosome 14q24.3. Housing over 700 genes, chromosome 14 comprises nearly 3.5% of the human genome. Chromosome 14 encodes the Presenilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer’s disease. The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder α1-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction. An inversion of the long arm of chromosome 14 is thought to be involved in T-cell chronic lymphocytic leukemia (CLL), a cancer that affects T lymphocytes.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-8226R-CY3)
Fornitore: Bioss
Codice articolo fornitore: BS-8226R-CY3
Codice articolo locale: BOSSBS-8226R-CY3
Descrizione: FAM161B is a 647 amino acid protein that belongs to the FAM161 family. The gene that encodes FAM161B consists of approximately 16,413 bases and maps to human chromosome 14q24.3. Housing over 700 genes, chromosome 14 comprises nearly 3.5% of the human genome. Chromosome 14 encodes the Presenilin 1 (PSEN1) gene, which is one of the three key genes associated with the development of Alzheimer’s disease. The SERPINA1 gene is also located on chromosome 14 and, when defective, leads to the genetic disorder α1-antitrypsin deficiency, which is characterized by severe lung complications and liver dysfunction. An inversion of the long arm of chromosome 14 is thought to be involved in T-cell chronic lymphocytic leukemia (CLL), a cancer that affects T lymphocytes.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9659R-FITC)
Fornitore: Bioss
Codice articolo fornitore: BS-9659R-FITC
Codice articolo locale: BOSSBS-9659R-FITC
Descrizione: With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The FAM76B gene product has been provisionally designated FAM76B pending further characterization.
UOM: 1 * 100 µl


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