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Varenummer: (BOSSBS-3195R-CY5.5)

Leverandør: Bioss

Beskrivelse: Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction. Found in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, is phosphorylated by IKBKE and TBK1 kinases. This induces a conformational change, leading to its dimerization and nuclear localization and association with CREB binding protein (CREBBP) to form dsRNA-activated factor 1 (DRAF1), a complex which activates the transcription of the type I IFN and ISG genes. Can activate distinct gene expression programs in macrophages and can induce significant apoptosis in primary macrophages.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-6926R-CY5)

Leverandør: Bioss

Beskrivelse: CCDC125, also known as KENAE, is a 511 amino acid protein expressed as two isoforms produced by alternative splicing and encoded by a gene mapping to human chromosome 5. 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

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Varenummer: (BOSSBS-15106R-CY5)

Leverandør: Bioss

Beskrivelse: The gene encoding C20orf24 maps to human chromosome 20, which houses over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome. Additionally, chromosome 20 contains a region with numerous genes which are thought important for seminal production and may be potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. The C20orf24 gene product, also desginated Rab5-interacting protein (RIP5), may be involved in the induction of both caspase-dependent apoptosis and caspase-independent cell death.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-8129R-CY5.5)

Leverandør: Bioss

Beskrivelse: CCDC36 , also known as CT74 (cancer/testis antigen 74), is a 584 amino acid protein that contains coiled-coil domains and is expressed as three alternatively spliced isoforms. The gene encoding CCDC36 maps to human chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-8129R-CY5)

Leverandør: Bioss

Beskrivelse: CCDC36 , also known as CT74 (cancer/testis antigen 74), is a 584 amino acid protein that contains coiled-coil domains and is expressed as three alternatively spliced isoforms. The gene encoding CCDC36 maps to human chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-8129R-CY7)

Leverandør: Bioss

Beskrivelse: CCDC36 , also known as CT74 (cancer/testis antigen 74), is a 584 amino acid protein that contains coiled-coil domains and is expressed as three alternatively spliced isoforms. The gene encoding CCDC36 maps to human chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-8024R-CY7)

Leverandør: Bioss

Beskrivelse: This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008].

UOM: 1 * 100 µl

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Leverandør: Biotium

Beskrivelse: Pax genes contain paired domains with strong homology to genes in Drosophila, which are involved in programming early development. Lesions in the Pax-6 gene account for most cases of aniridia, a congenital malformation of the eye, chiefly characterized by iris hypoplasia, which can cause blindness. Pax-6 is involved in other anterior segment malformations besides aniridia, such as Peters anomaly, a major error in the embryonic development of the eye with corneal clouding with variable iridolenticulocorneal adhesions. The Pax-6 gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain. The paired domain is composed of two distinct DNA-binding subdomains, the amino-terminal subdomain and the carboxy-terminal subdomain, which bind respective consensus DNA sequences. The human Pax-6 gene produces two alternatively spliced isoforms that have the distinct structure of the paired domain.

Varenummer: (BOSSBS-8575R-FITC)

Leverandør: Bioss

Beskrivelse: FSIP1 is a 581 amino acid protein that is expressed in airway epithelium. A member of the FSIP1 family, FSIP1 is encoded by a gene that maps to human chromosome 15q14 and mouse chromosome 2 E5. 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

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Varenummer: (BOSSBS-12479R-A555)

Leverandør: Bioss

Beskrivelse: TMEM16C is a 981 amino acid multi-pass membrane protein that is encoded by a gene which maps to chromosome 11. 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 thalassemia are caused by HBB gene mutations, while 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.

UOM: 1 * 100 µl

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Leverandør: Biotium

Beskrivelse: Pax genes contain paired domains with strong homology to genes in Drosophila, which are involved in programming early development. Lesions in the Pax-6 gene account for most cases of aniridia, a congenital malformation of the eye, chiefly characterized by iris hypoplasia, which can cause blindness. Pax-6 is involved in other anterior segment malformations besides aniridia, such as Peters anomaly, a major error in the embryonic development of the eye with corneal clouding with variable iridolenticulocorneal adhesions. The Pax-6 gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain. The paired domain is composed of two distinct DNA-binding subdomains, the amino-terminal subdomain and the carboxy-terminal subdomain, which bind respective consensus DNA sequences. The human Pax-6 gene produces two alternatively spliced isoforms that have the distinct structure of the paired domain.

Varenummer: (BOSSBS-8042R-A555)

Leverandør: Bioss

Beskrivelse: The Major facilitator superfamily consists of presumed carbohydrate transporters with 10-12 membrane-spanning domains. Belonging to the facilitator superfamily, HIAT1 is a 490 amino acid multi-pass membrane protein that may function as a sugar transporter and is expressed in adult and embryonic brain. The HIAT1 gene was first observed while analyzing for active genes in neonatal mouse hippocampus. The gene encoding HIAT1 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. Stickler syndrome, Parkinsons, schizophrenia, familial adenomatous polyposis, Gaucher disease and Usher syndrome are also associated with chromosome 1.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-8042R-A488)

Leverandør: Bioss

Beskrivelse: The Major facilitator superfamily consists of presumed carbohydrate transporters with 10-12 membrane-spanning domains. Belonging to the facilitator superfamily, HIAT1 is a 490 amino acid multi-pass membrane protein that may function as a sugar transporter and is expressed in adult and embryonic brain. The HIAT1 gene was first observed while analyzing for active genes in neonatal mouse hippocampus. The gene encoding HIAT1 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. Stickler syndrome, Parkinsons, schizophrenia, familial adenomatous polyposis, Gaucher disease and Usher syndrome are also associated with chromosome 1.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-1071R-FITC)

Leverandør: Bioss

Beskrivelse: This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq].

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-1071R-A350)

Leverandør: Bioss

Beskrivelse: This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq].

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-6128R-A750)

Leverandør: Bioss

Beskrivelse: This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, adevelopmental disorder caused by deletion of multiple genes at 7q11.23.

UOM: 1 * 100 µl

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