Du Søgte efter: genome

Varenummer: (BOSSBS-10454R-CY7)

Leverandør: Bioss

Beskrivelse: This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011].

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-15337R-CY5)

Leverandør: Bioss

Beskrivelse: Chromosome 9 consists of about 145 million bases and 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. The C9orf66 gene product has been provisionally designated C9orf66 pending further characterisation.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-8310R)

Leverandør: Bioss

Beskrivelse: COX4NB is a 210 amino acid protein encoded by the human gene COX4NB. COX4NB belongs to the UPF0172 (NOC4) family and is found on chromosome 16, adjacent to the gene that encodes COX4. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16 through the CREBBP gene which encodes a critical CREB binding protein. Crohn’s disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other auto-immune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-9489R)

Leverandør: Bioss

Beskrivelse: C9orf46 is a 147 amino acid transmembrane protein. The gene encoding C9orf46 maps to human chromosome 9, which consists of about 145 million bases and 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 characterized 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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Varenummer: (BOSSBS-8084R)

Leverandør: Bioss

Beskrivelse: CCDC112, also known as MBC1 (mutated in bladder cancer 1), is a 446 amino acid protein. The gene encoding CCDC112 is located on chromosome 5. Due to alternative splicing events, CCDC112 exists as two isoforms. Chromosome 5 comprises about 6% of human genomic DNA and contains 181 million base pairs encoding around 1,000 genes. 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-15339R)

Leverandør: Bioss

Beskrivelse: Chromosome 9 consists of about 145 million bases and 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 characterized 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. The C9orf7 gene product has been provisionally designated C9orf7 pending further characterization.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-15335R)

Leverandør: Bioss

Beskrivelse: Chromosome 9 consists of about 145 million bases and 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 characterized 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. The C9orf62 gene product has been provisionally designated C9orf62 pending further characterization.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-7013R-A647)

Leverandør: Bioss

Beskrivelse: The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. Two transcript variants encoding distinct isoforms have been identified for this gene.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-9368R-A647)

Leverandør: Bioss

Beskrivelse: OCEL1, is a 264 amino acid protein that is encoded by a gene which maps to human chromosome 19. Chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-9368R-HRP)

Leverandør: Bioss

Beskrivelse: OCEL1, is a 264 amino acid protein that is encoded by a gene which maps to human chromosome 19. Chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-3990R-A488)

Leverandør: Bioss

Beskrivelse: This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010].

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-3990R-CY5)

Leverandør: Bioss

Beskrivelse: This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010].

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-9368R)

Leverandør: Bioss

Beskrivelse: OCEL1, is a 264 amino acid protein that is encoded by a gene which maps to human chromosome 19. Chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognized for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-6338R-A750)

Leverandør: Bioss

Beskrivelse: This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-2600R-A555)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is an interleukin 3 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL3 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL3. This gene and the gene encoding the colony stimulating factor 2 receptor alpha chain (CSF2RA) form a cytokine receptor gene cluster in a X-Y pseudoautosomal region on chromosomes X or Y.

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-11398R-A647)

Leverandør: Bioss

Beskrivelse: This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.

UOM: 1 * 100 µl

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