Hledali jste: Diethyl+methylmalonate

Katalogové číslo: (BOSSBS-13180R-CY7)

Dodavatel: Bioss

Popis: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The FLJ11184 gene product has been provisionally designated FLJ11184 pending further characterization.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-4234R-A555)

Dodavatel: Bioss

Popis: Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9998R-A680)

Dodavatel: Bioss

Popis: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The C4orf44 gene product has been provisionally designated C4orf44 pending further characterisation.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15194R-A750)

Dodavatel: Bioss

Popis: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The C4orf46 gene product has been provisionally designated C4orf46 pending further characterization.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-13180R-HRP)

Dodavatel: Bioss

Popis: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The FLJ11184 gene product has been provisionally designated FLJ11184 pending further characterization.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-8251R-A350)

Dodavatel: Bioss

Popis: The DCN1-like protein family is comprised of Dcun1D1, Dcun1D2, Dcun1D3, Dcun1D4 and Dcun1D5. The founding member, Dcun1D1, is involved in the malignant transformation of squamous cell lineage.Dcun1D4, (defective in cullin neddylation protein 1-like protein 4 or DCN1-like protein 4), also designated KIAA0276, exists as 2 isoforms as a result of alternative splicing and contains one DCUN1 domain. The gene encoding Dcun1D4 maps to chromosome 4, which houses 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. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-13180R-A647)

Dodavatel: Bioss

Popis: Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The FLJ11184 gene product has been provisionally designated FLJ11184 pending further characterization.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9808R-A750)

Dodavatel: Bioss

Popis: C2ORF25 is a mitochondrial protein and its function is not fully identified. But, Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to adenosylcobalamin in mitochondria and to methylcobalamin in cytoplasm is necessary for homeostasis of methylmalonic acid and homocysteine. C2ORF25 encodes a protein involved in an early step of cobalamin metabolism.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-11627R)

Dodavatel: Bioss

Popis: Fe65L is a 758 amino acid protein that contains one WW domain and two PID domains. Binding to the intracellular domain of the ∫-Amyloid precursor protein, Fe65L is thought to modulate the internalization and, therefore, the accessibility and function of ∫-Amyloid. Via its ability to control the intracellular accumulation of ∫-Amyloid, Fe65L is thought to play a role in the pathogenesis of Alzheimer's disease. Multiple isoforms of Fe65L exist due to alternative splicing events. The gene encoding Fe65L 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. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15483R-CY7)

Dodavatel: Bioss

Popis: HIBADH is a 336 amino acid mitochondrial enzyme that catalyses the NAD+-dependent, reversible oxidisation of 3-Hydroxyisobutyrate to methylmalonate semialdehyde, an intermediate of valine catabolism. The enzyme functions as a homodimer between a pH of 7,0 and 10,0, with optimal activity between 8,8 and 9,0. It was previously hypothesised that defects in the gene encoding HIBADH may be the cause of 3-Hydroxyisobutyric aciduria, a rare disorder that is characterised by a variety of clinical manifestations such as neurodevelopmental problems and dysmorphic features. However, it was shown that HIBADH activity was equal in patients with 3-Hydroxyisobutyric aciduria as compared with controls.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15483R-HRP)

Dodavatel: Bioss

Popis: HIBADH is a 336 amino acid mitochondrial enzyme that catalyses the NAD+-dependent, reversible oxidisation of 3-Hydroxyisobutyrate to methylmalonate semialdehyde, an intermediate of valine catabolism. The enzyme functions as a homodimer between a pH of 7,0 and 10,0, with optimal activity between 8,8 and 9,0. It was previously hypothesised that defects in the gene encoding HIBADH may be the cause of 3-Hydroxyisobutyric aciduria, a rare disorder that is characterised by a variety of clinical manifestations such as neurodevelopmental problems and dysmorphic features. However, it was shown that HIBADH activity was equal in patients with 3-Hydroxyisobutyric aciduria as compared with controls.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15483R)

Dodavatel: Bioss

Popis: HIBADH is a 336 amino acid mitochondrial enzyme that catalyzes the NAD+-dependent, reversible oxidization of 3-Hydroxyisobutyrate to methylmalonate semialdehyde, an intermediate of valine catabolism. The enzyme functions as a homodimer between a pH of 7.0 and 10.0, with optimal activity between 8.8 and 9.0. It was previously hypothesized that defects in the gene encoding HIBADH may be the cause of 3-Hydroxyisobutyric aciduria, a rare disorder that is characterized by a variety of clinical manifestations such as neurodevelopmental problems and dysmorphic features. However, it was shown that HIBADH activity was equal in patients with 3-Hydroxyisobutyric aciduria as compared with controls.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9961R-A680)

Dodavatel: Bioss

Popis: The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-15483R-A647)

Dodavatel: Bioss

Popis: HIBADH is a 336 amino acid mitochondrial enzyme that catalyses the NAD+-dependent, reversible oxidisation of 3-Hydroxyisobutyrate to methylmalonate semialdehyde, an intermediate of valine catabolism. The enzyme functions as a homodimer between a pH of 7,0 and 10,0, with optimal activity between 8,8 and 9,0. It was previously hypothesised that defects in the gene encoding HIBADH may be the cause of 3-Hydroxyisobutyric aciduria, a rare disorder that is characterised by a variety of clinical manifestations such as neurodevelopmental problems and dysmorphic features. However, it was shown that HIBADH activity was equal in patients with 3-Hydroxyisobutyric aciduria as compared with controls.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9995R-A680)

Dodavatel: Bioss

Popis: C4orf32 is a 132 amino acid single pass membrane protein that is encoded by a gene that maps to human chromosome 4. Human chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is located on chromosome 4. FGFR-3 is also encoded by a gene that maps to human chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Měrná jednotka: 1 * 100 µl

Akce

Katalogové číslo: (BOSSBS-9991R-A680)

Dodavatel: Bioss

Popis: C4orf22 is a 233 amino acid protein that exists as three alternatively spliced isoforms and are encoded by a gene encoding maping to human chromosome 4, which represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded by a gene that maps to chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.

Měrná jednotka: 1 * 100 µl

Akce