Du Søgte efter: genome

Varenummer: (BOSSBS-4728R-A555)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012].

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-4728R-CY5)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012].

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-4728R-HRP)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012].

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-11012R-CY5)

Leverandør: Bioss

Beskrivelse: 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

Tilbud

Varenummer: (BOSSBS-13326R-CY5)

Leverandør: Bioss

Beskrivelse: 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 LOC390637 gene product has been provisionally designated LOC390637 pending further characterization.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-8654R-CY3)

Leverandør: Bioss

Beskrivelse: 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 FAM81A gene product has been provisionally designated FAM81A pending further characterization.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-9115R-CY5.5)

Leverandør: Bioss

Beskrivelse: Unknown. Candidate gene encoding tumor antigens.Members of the BAGE gene family encode antigens that are recognized by cytotoxic T lymphocytes and are also known as CT (cancer/testis) antigens. Generated by juxtacentromeric shuffling of the MLL3 gene, the ancestral BAGE gene was expanded by acrocentric exchanges and/or juxtacentromeric movements.Generally, BAGE proteins are silent in all normal tissues with the exception of testis. BAGE2 and BAGE 3 (B melanoma antigen 2 and 3, respectively), also known as Cancer/testis antigen 2.2 and 2.3 (respectively), are 109 amino acid secreted proteins that are expressed in 22% of melanomas, lung and bladder carcinomas, and are also expressed in normal testis tissue. Like the genes encoding MAGE proteins, BAGE genes are most likely silenced by DNA methylation and/or chromatin compaction in normal tissues other than testis.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-8143R)

Leverandør: Bioss

Beskrivelse: The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion, and drug extrusion and delivery. CCDC93 (coiled-coil domain containing 93) is a 631 amino acid protein that belongs to the CCDC93 family. CCDC93 is encoded by a gene located on human chromosome 2, which makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is related to mutations in the ALMS1 gene.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-11012R)

Leverandør: Bioss

Beskrivelse: 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

Tilbud

Varenummer: (BOSSBS-12195R)

Leverandør: Bioss

Beskrivelse: The Hox proteins play a role in development and cellular differentiation by regulating downstream target genes. Specifically, the Hox proteins direct DNA-protein and protein-protein interactions that assist in determining the morphologic features associated with the anterior-posterior body axis. The mammalian HOX gene complex consists of 39 genes that are located on 4 linkage groups, which are dispersed over 4 chromosomes. HOX genes that occupy the same relative position along the 5’ to 3’ coordinate (trans-paralogous genes) are more similar in sequence and expression pattern than adjacent HOX genes on the same chromosome. HoxC6 sequence-specific transcription factor is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. HOXC6 may be a novel potential therapeutic target for prostate cancer.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-12290R-CY7)

Leverandør: Bioss

Beskrivelse: The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif. RBMY (RBM, Y chromosome) encodes a germ-cell specific nuclear protein involved in spermatogenesis. The RBM gene family, including RBMY1A, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1H and RBMY1J, is comprised of at least 30 genes and pseudogenes, found on both arms of the Y chromosome. RBM X, an ancestral X chromosome homolog of the RBMY gene, encodes hnRNP G, which is widely expressed, whereas the RBMY gene evolved a male-specific function in spermatogenesis. Micro-deletions of the AZFb region of the Y chromosome, which contains a number of RBMY genes, usually result in severe consequences for spermatogenesis. RBM expression is localized to the nuclei of germ cells and RBM interacts with Tra2beta. Tra2beta is a ubiquitous activator of pre-mRNA splicing, but is most highly expressed in testis, suggesting a role for RBM in Tra2beta-dependent splicing in spermatocytes. The human RBMX gene maps to chromosome Xq26 and the RBMY gene family is found on all mammalian Y chomosomes.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-12290R-A680)

Leverandør: Bioss

Beskrivelse: The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif. RBMY (RBM, Y chromosome) encodes a germ-cell specific nuclear protein involved in spermatogenesis. The RBM gene family, including RBMY1A, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1H and RBMY1J, is comprised of at least 30 genes and pseudogenes, found on both arms of the Y chromosome. RBM X, an ancestral X chromosome homolog of the RBMY gene, encodes hnRNP G, which is widely expressed, whereas the RBMY gene evolved a male-specific function in spermatogenesis. Micro-deletions of the AZFb region of the Y chromosome, which contains a number of RBMY genes, usually result in severe consequences for spermatogenesis. RBM expression is localised to the nuclei of germ cells and RBM interacts with Tra2beta. Tra2beta is a ubiquitous activator of pre-mRNA splicing, but is most highly expressed in testis, suggesting a role for RBM in Tra2beta-dependent splicing in spermatocytes. The human RBMX gene maps to chromosome Xq26 and the RBMY gene family is found on all mammalian Y chromosomes.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-9457R-A680)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-8143R-A680)

Leverandør: Bioss

Beskrivelse: The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion, and drug extrusion and delivery. CCDC93 (coiled-coil domain containing 93) is a 631 amino acid protein that belongs to the CCDC93 family. CCDC93 is encoded by a gene located on human chromosome 2, which makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome, is related to mutations in the ALMS1 gene.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-11012R-CY7)

Leverandør: Bioss

Beskrivelse: 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

Tilbud

Varenummer: (BOSSBS-13326R-CY7)

Leverandør: Bioss

Beskrivelse: 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 LOC390637 gene product has been provisionally designated LOC390637 pending further characterization.

UOM: 1 * 100 µl

Tilbud