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Varenummer: (BOSSBS-2762R-A647)
Leverandør: Bioss
Beskrivelse: This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011].
UOM: 1 * 100 µl


Varenummer: (BOSSBS-9496R-A555)
Leverandør: Bioss
Beskrivelse: C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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


Varenummer: (BOSSBS-9494R-A750)
Leverandør: Bioss
Beskrivelse: C9orf114 is a 376 amino acid protein encoded by a gene that maps to human chromosome 9q34.11. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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 leukaemias.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-9494R-HRP)
Leverandør: Bioss
Beskrivelse: C9orf114 is a 376 amino acid protein encoded by a gene that maps to human chromosome 9q34.11. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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


Varenummer: (BOSSBS-9496R-A350)
Leverandør: Bioss
Beskrivelse: C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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


Varenummer: (BOSSBS-8312R-FITC)
Leverandør: Bioss
Beskrivelse: The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid 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 due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes. The FAM82A gene product has been provisionally designated FAM82A pending further characterization.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-9496R-HRP)
Leverandør: Bioss
Beskrivelse: C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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


Varenummer: (BOSSBS-9490R-A680)
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 leukaemias. The KIAA1529 gene product has been provisionally designated KIAA1529 pending further characterisation.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-9494R-A488)
Leverandør: Bioss
Beskrivelse: C9orf114 is a 376 amino acid protein encoded by a gene that maps to human chromosome 9q34.11. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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


Varenummer: (BOSSBS-12381R-FITC)
Leverandør: Bioss
Beskrivelse: CAMSAP1L1 is a 1,489 amino acid protein that contains one calponin-homology domain and one CKK domain, which serves to bind microtubules. There are three isoforms of CAMSAP1L1 that are produced as a result of alternative splicing events. The gene encoding CAMSAP1L1 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. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-13727R-A555)
Leverandør: Bioss
Beskrivelse: Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB14 (Protocadherin beta 14) is a 798 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whos genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB14) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. Localized to the cell membrane, PCDHB14 is a single-pass type I membrane protein that contains six cadherin domains.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-13727R-A488)
Leverandør: Bioss
Beskrivelse: Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB14 (Protocadherin beta 14) is a 798 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whos genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB14) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. Localized to the cell membrane, PCDHB14 is a single-pass type I membrane protein that contains six cadherin domains.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-13727R-A647)
Leverandør: Bioss
Beskrivelse: Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB14 (Protocadherin beta 14) is a 798 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whos genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB14) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. Localized to the cell membrane, PCDHB14 is a single-pass type I membrane protein that contains six cadherin domains.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-13727R-A680)
Leverandør: Bioss
Beskrivelse: Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDHB14 (Protocadherin beta 14) is a 798 amino acid protein that is one of 16 proteins in the protocadherin beta cluster. Unlike the alpha and gamma gene clusters whos genes are spliced to downstream constant region exons during transcription, members of the beta cluster (such as PCDHB14) do not use constant-region exons to produce mRNAs. As a result, each protocadherin beta gene encodes the transmembrane, extracellular and short cytoplasmic domains of the protein. Localized to the cell membrane, PCDHB14 is a single-pass type I membrane protein that contains six cadherin domains.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-11963R-CY7)
Leverandør: Bioss
Beskrivelse: There are three SorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, SorCS1, SorCS2 and SorCS3 genes are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS2 (sortilin-related VPS10 domain containing receptor 2) is a 1,150 amino acid single-pass type I membrane protein that is highly expressed in brain and kidney. Containing six BNR repeats and a single PKD domain, SorCS2 is encoded by a gene that maps to human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes.
UOM: 1 * 100 µl


Varenummer: (BOSSBS-11963R-A350)
Leverandør: Bioss
Beskrivelse: There are three SorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, SorCS1, SorCS2 and SorCS3 genes are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS2 (sortilin-related VPS10 domain containing receptor 2) is a 1,150 amino acid single-pass type I membrane protein that is highly expressed in brain and kidney. Containing six BNR repeats and a single PKD domain, SorCS2 is encoded by a gene that maps to human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes.
UOM: 1 * 100 µl


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