Du Søgte efter: genome

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

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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

Varenummer: (BOSSBS-8654R)

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

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Varenummer: (BOSSBS-4501R-A350)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence. [provided by RefSeq, Jan 2012]

UOM: 1 * 100 µl

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Varenummer: (BOSSBS-6128R-A680)

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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Varenummer: (BOSSBS-7995R-A647)

Leverandør: Bioss

Beskrivelse: This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012].

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-7995R-A488)

Leverandør: Bioss

Beskrivelse: This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012].

UOM: 1 * 100 µl

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Varenummer: (USBIP9102-70A)

Leverandør: US Biological

Beskrivelse: Anti-Protein Gene Product 9.5 Mouse Monoclonal Antibody [clone: 10F342]

UOM: 1 * 1 Each

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Varenummer: (BOSSBS-6128R-A555)

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

Tilbud

Varenummer: (BOSSBS-7619R-CY5)

Leverandør: Bioss

Beskrivelse: This gene encodes a proline rich protein. Studies of the related mouse gene suggest that this gene is regulated by p53 and may participate in p53 mediated growth suppression. Alternatively spliced transcript variants encoding different isoforms have been described.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-9457R-HRP)

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. [provided by RefSeq, Jul 2008].

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-1342R-CY7)

Leverandør: Bioss

Beskrivelse: Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-6278R)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-10249R-CY3)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-8128R-CY5.5)

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. [provided by RefSeq, Jul 2008].

UOM: 1 * 100 µl

Tilbud

Varenummer: (BOSSBS-11356R-A680)

Leverandør: Bioss

Beskrivelse: The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene.

UOM: 1 * 100 µl

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