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Codice catalogo: (BOSSBS-15187R-A555)
Fornitore: Bioss
Codice articolo fornitore: BS-15187R-A555
Codice articolo locale: BOSSBS-15187R-A555
Descrizione: C4orf17 (chromosome 4 open reading frame 17) is a 359 amino acid protein 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 on chromosome 4. FGFR-3 is also encoded by a gene that is located 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9414R-A647)
Fornitore: Bioss
Codice articolo fornitore: BS-9414R-A647
Codice articolo locale: BOSSBS-9414R-A647
Descrizione: NET-4, also known as TSPAN5 or TM4SF9, is a 268 amino acid multi-pass membrane protein that belongs to the tetraspanin family and is thought to play a role in signal transduction events related to cell development, activation, growth and motility. The gene encoding NET-4 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9414R-A350)
Fornitore: Bioss
Codice articolo fornitore: BS-9414R-A350
Codice articolo locale: BOSSBS-9414R-A350
Descrizione: NET-4, also known as TSPAN5 or TM4SF9, is a 268 amino acid multi-pass membrane protein that belongs to the tetraspanin family and is thought to play a role in signal transduction events related to cell development, activation, growth and motility. The gene encoding NET-4 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9808R-A680)
Fornitore: Bioss
Codice articolo fornitore: BS-9808R-A680
Codice articolo locale: BOSSBS-9808R-A680
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15190R-HRP)
Fornitore: Bioss
Codice articolo fornitore: BS-15190R-HRP
Codice articolo locale: BOSSBS-15190R-HRP
Descrizione: C4orf29 (chromosome 4 open reading frame 29) is a 414 amino acid secreted protein that exists as four alternatively spliced isoforms and 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15190R-CY5)
Fornitore: Bioss
Codice articolo fornitore: BS-15190R-CY5
Codice articolo locale: BOSSBS-15190R-CY5
Descrizione: C4orf29 (chromosome 4 open reading frame 29) is a 414 amino acid secreted protein that exists as four alternatively spliced isoforms and 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.
UOM: 1 * 100 µl


Fornitore: TCI
Descrizione: Diethyl methylmalonate ≥98.0% (by GC)

Codice catalogo: (BOSSBS-11627R)
Fornitore: Bioss
Codice articolo fornitore: BS-11627R
Codice articolo locale: BOSSBS-11627R
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15483R-CY7)
Fornitore: Bioss
Codice articolo fornitore: BS-15483R-CY7
Codice articolo locale: BOSSBS-15483R-CY7
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15483R-HRP)
Fornitore: Bioss
Codice articolo fornitore: BS-15483R-HRP
Codice articolo locale: BOSSBS-15483R-HRP
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-13076R-CY3)
Fornitore: Bioss
Codice articolo fornitore: BS-13076R-CY3
Codice articolo locale: BOSSBS-13076R-CY3
Descrizione: NPP6 is a 440 amino acid member of the nucleotide pyrophosphatase/phosphodiesterase family. NPP6 is a secreted and single-pass type I membrane protein. Predominantly expressed in brain and kidney, NPP6 is a choline-specific glycerophosphodiester phosphodiesterase. NPP6 can hydrolyze the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine, glycerophosphorylcholine, sphingosylphosphorylcholine and lysophosphatidylcholine (LPC). NPP6 has been found to have a preference for LPC with polyunsaturated or short fatty acids. The gene encoding NPP6 maps to human chromosome 4, which consists of approximately 6% of the human genome and nearly 900 genes. Chromosome 4 is associated with Huntington's disease, FGFR-3, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-13076R-A555)
Fornitore: Bioss
Codice articolo fornitore: BS-13076R-A555
Codice articolo locale: BOSSBS-13076R-A555
Descrizione: NPP6 is a 440 amino acid member of the nucleotide pyrophosphatase/phosphodiesterase family. NPP6 is a secreted and single-pass type I membrane protein. Predominantly expressed in brain and kidney, NPP6 is a choline-specific glycerophosphodiester phosphodiesterase. NPP6 can hydrolyze the classical substrate for phospholipase C, p-nitrophenyl phosphorylcholine, glycerophosphorylcholine, sphingosylphosphorylcholine and lysophosphatidylcholine (LPC). NPP6 has been found to have a preference for LPC with polyunsaturated or short fatty acids. The gene encoding NPP6 maps to human chromosome 4, which consists of approximately 6% of the human genome and nearly 900 genes. Chromosome 4 is associated with Huntington's disease, FGFR-3, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15483R-A647)
Fornitore: Bioss
Codice articolo fornitore: BS-15483R-A647
Codice articolo locale: BOSSBS-15483R-A647
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9995R-A680)
Fornitore: Bioss
Codice articolo fornitore: BS-9995R-A680
Codice articolo locale: BOSSBS-9995R-A680
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-9991R-A680)
Fornitore: Bioss
Codice articolo fornitore: BS-9991R-A680
Codice articolo locale: BOSSBS-9991R-A680
Descrizione: 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.
UOM: 1 * 100 µl


Codice catalogo: (BOSSBS-15483R-A750)
Fornitore: Bioss
Codice articolo fornitore: BS-15483R-A750
Codice articolo locale: BOSSBS-15483R-A750
Descrizione: 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.
UOM: 1 * 100 µl


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