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Katalogové číslo: (BOSSBS-11725R-CY3)

Dodavatel: Bioss

Popis: Glutathione S-transferases (GSTs) function to conjugate reduced glutathione to many exogenous and endogenous hydrophobic electrophiles. Although it shares the carboxy and amino-terminal glutathione S-transferase domains, GDAP1 is characterized as a GST-like protein because it contains an extended GST domain II and a predicted transmembrane domain, two characteristics which are unusual for GST family members. GDAP1 may function in a signal transduction pathway that is responsible for ganglioside-induced neurite differentiation and also may play a role in protecting myelin membranes from free-radical damage. Mutations in the gene encoding GDAP1 is the cause of many forms of Charcot-Marie-Tooth disease, a common inherited disorder of the peripheral nervous system that is characterized by reduced nerve conduction velocities, slow progressive distal muscle atrophy and absent deep tendon reflexes.

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Akce

Katalogové číslo: (BOSSBS-11725R-A680)

Dodavatel: Bioss

Popis: Glutathione S-transferases (GSTs) function to conjugate reduced glutathione to many exogenous and endogenous hydrophobic electrophiles. Although it shares the carboxy and amino-terminal glutathione S-transferase domains, GDAP1 is characterised as a GST-like protein because it contains an extended GST domain II and a predicted transmembrane domain, two characteristics which are unusual for GST family members. GDAP1 may function in a signal transduction pathway that is responsible for ganglioside-induced neurite differentiation and also may play a role in protecting myelin membranes from free-radical damage. Mutations in the gene encoding GDAP1 is the cause of many forms of Charcot-Marie-Tooth disease, a common inherited disorder of the peripheral nervous system that is characterised by reduced nerve conduction velocities, slow progressive distal muscle atrophy and absent deep tendon reflexes.

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Akce

Katalogové číslo: (BOSSBS-13322R-A647)

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-15338R-FITC)

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 C9orf68 gene product has been provisionally designated C9orf68 pending further characterisation. There are two isoforms of C9orf68 that are produced as a result of alternative splicing events.

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Akce

Katalogové číslo: (BOSSBS-15338R-A488)

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 C9orf68 gene product has been provisionally designated C9orf68 pending further characterisation. There are two isoforms of C9orf68 that are produced as a result of alternative splicing events.

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Akce

Katalogové číslo: (BOSSBS-15322R-HRP)

Dodavatel: Bioss

Popis: C9orf21 (chromosome 9 open reading frame 21) is a 226 amino acid protein that belongs to the UPF0308 family and is encoded by a gene that maps to human chromosome 9q22.33. 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-CY3)

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-15322R-A750)

Dodavatel: Bioss

Popis: C9orf21 (chromosome 9 open reading frame 21) is a 226 amino acid protein that belongs to the UPF0308 family and is encoded by a gene that maps to human chromosome 9q22.33. 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-15317R-A555)

Dodavatel: Bioss

Popis: C9orf163 (chromosome 9 open reading frame 163) is a 203 amino acid protein encoded by a gene that 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.

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Akce

Katalogové číslo: (BOSSBS-15316R-CY7)

Dodavatel: Bioss

Popis: C9orf16 (chromosome 9 open reading frame 16) is an 83 amino acid protein that belongs to the UPF0184 (EST00098) family and is 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 leukemias.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15317R-A488)

Dodavatel: Bioss

Popis: C9orf163 (chromosome 9 open reading frame 163) is a 203 amino acid protein encoded by a gene that 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-15348R-HRP)

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 C9orf93 gene product has been provisionally designated C9orf93 pending further characterisation. There are two isoforms of C9orf93 that are produced as a result of alternative splicing events.

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Akce

Katalogové číslo: (BOSSBS-9498R-CY7)

Dodavatel: Bioss

Popis: C9orf153 is a 101 amino acid protein that exists as two alternatively spliced isoforms. The gene encoding C9orf153 maps to human chromosome 9q21.33. 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.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15317R-HRP)

Dodavatel: Bioss

Popis: C9orf163 (chromosome 9 open reading frame 163) is a 203 amino acid protein encoded by a gene that 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-15344R-A750)

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-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