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Katalogové číslo: (BOSSBS-15344R-A350)

Dodavatel: Bioss

Popis: 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 C9orf84 gene product has been provisionally designated C9orf84 pending further characterisation. There are two isoforms of C9orf84 that are produced as a result of alternative splicing events.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15344R-CY7)

Dodavatel: Bioss

Popis: 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 C9orf84 gene product has been provisionally designated C9orf84 pending further characterisation. There are two isoforms of C9orf84 that are produced as a result of alternative splicing events.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-13322R)

Dodavatel: Bioss

Popis: Glycosylation of asparagine residues in Asn-X-Ser/Thr motifs in proteins commonly occur in the lumen of the endoplasmic reticulum (ER). Glucosidase I catalyzes the first step in the N-linked oligosaccharide processing pathway. It specifically removes the distal alpha 1,2-linked glucose residue from the Glc3-Man9-GlcNAc2 oligosaccharide precursor. Glucosidase I contains a short cytosolic tail, a single pass transmembrane domain and a large C-terminal catalytic domain located on the luminal side of the ER. Mutations in the gene encoding Glucosidase I result in the congenital disorder glycosylation (CDG-IIb), which is characterized by generalized hypotonia, dysmorphic features, hepatomegaly, hypoventilation, feeding problems, seizures and death. Two point mutations in the Glucosidase I gene have been identified and result in amino acid substitutions, namely Arg486Thr and Phe652Leu, that affect polypeptide folding and active site formation.

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Akce

Katalogové číslo: (BOSSBS-15308R)

Dodavatel: Bioss

Popis: C9orf103 (chromosome 9 open reading frame 103), also known as gluconate kinase, is a 187 amino acid protein that belongs to the gluconokinase gntK/gntV family and catalyzes the conversion of ATP and D-gluconate to ADP and 6-D-gluconate. Existing as three alternatively spliced isoforms, the gene encoding C9orf103 maps to human chromosome 9q21.32. 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.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15315R-CY7)

Dodavatel: Bioss

Popis: C9orf142 (chromosome 9 open reading frame 142) is a 204 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf142 maps to human chromosome 9q34.3. 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15315R-FITC)

Dodavatel: Bioss

Popis: C9orf142 (chromosome 9 open reading frame 142) is a 204 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf142 maps to human chromosome 9q34.3. 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15324R-A750)

Dodavatel: Bioss

Popis: C9orf25 (chromosome 9 open reading frame 25) is a 185 amino acid protein that exists as seven alternatively spliced isoforms that are encoded by a gene located on human chromosome 9. 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15323R-A647)

Dodavatel: Bioss

Popis: C9orf23 (chromosome 9 open reading frame 23) is a 163 amino acid protein that belongs to the histone-like Alba family and is encoded by a gene that maps to human chromosome 9p13.3. 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15323R-A680)

Dodavatel: Bioss

Popis: C9orf23 (chromosome 9 open reading frame 23) is a 163 amino acid protein that belongs to the histone-like Alba family and is encoded by a gene that maps to human chromosome 9p13.3. 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15308R-A647)

Dodavatel: Bioss

Popis: C9orf103 (chromosome 9 open reading frame 103), also known as gluconate kinase, is a 187 amino acid protein that belongs to the gluconokinase gntK/gntV family and catalyses the conversion of ATP and D-gluconate to ADP and 6-D-gluconate. Existing as three alternatively spliced isoforms, the gene encoding C9orf103 maps to human chromosome 9q21.32. 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.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15308R-A750)

Dodavatel: Bioss

Popis: C9orf103 (chromosome 9 open reading frame 103), also known as gluconate kinase, is a 187 amino acid protein that belongs to the gluconokinase gntK/gntV family and catalyses the conversion of ATP and D-gluconate to ADP and 6-D-gluconate. Existing as three alternatively spliced isoforms, the gene encoding C9orf103 maps to human chromosome 9q21.32. 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.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15318R-A647)

Dodavatel: Bioss

Popis: C9orf169 (chromosome 9 open reading frame 169) is a 423 amino acid single-pass membrane protein that belongs to the clpA/clpB family and torsin subfamily. The gene encoding C9orf169 maps to human chromosome 9q34.3. 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11490R-A750)

Dodavatel: Bioss

Popis: A mutation of the DYT1 gene, which codes for TorsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. Early-onset torsion dystonia is a movement disorder, characterised by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. TorsinA comprises 332 amino acids. TorsinA is widely expressed throughout the mouse central nervous system and is detected in the majority of neurons in nearly all regions. The proteins display cytoplasmic distribution, although in some types of neurons localisation is perinuclear. TorsinA often performs chaperone-like functions that assist in the assembly, operation, or dis-assembly of protein complexes. The gene which encodes TorsinA has high homology to three additional mammalian genes and a nematode gene and distal similarity to the family of heat-shock proteins and the Clp protease family. The gene which encodes TorsinA maps to human chromosome 9q34.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11490R-CY3)

Dodavatel: Bioss

Popis: A mutation of the DYT1 gene, which codes for TorsinA, has been identified as the cause of one form of autosomal dominantly inherited dystonia. Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. TorsinA comprises 332 amino acids. TorsinA is widely expressed throughout the mouse central nervous system and is detected in the majority of neurons in nearly all regions. The proteins display cytoplasmic distribution, although in some types of neurons localization is perinuclear. TorsinA often performs chaperone-like functions that assist in the assembly, operation, or dis-assembly of protein complexes. The gene which encodes TorsinA has high homology to three additional mammalian genes and a nematode gene and distal similarity to the family of heat-shock proteins and the Clp protease family. The gene which encodes TorsinA maps to human chromosome 9q34.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15330R-FITC)

Dodavatel: Bioss

Popis: C9orf5 (chromosome 9 open reading frame 5), also known as CG2, is a 911 amino acid multi-pass membrane protein that is widely expressed and exists as four alternatively spliced isoforms. The gene encoding C9orf5 maps to human chromosome 9, which consists of about 145 million bases, represents 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.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9747R-A647)

Dodavatel: Bioss

Popis: Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD20A (ankyrin repeat domain-containing protein 20A) is an 823 amino acid protein that contains five ANK repeats. The gene encoding ANKRD20A maps to chromosome 9, which consists of about 145 million bases 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, and familial dysautonomia are associated with chromosome 9. Also, chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.

Měrná jednotka: 1 * 100 µl

Akce