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Catalog Number: (BOSSBS-11048R-CY3)
Supplier: Bioss
Description: Copper is an essential micronutrient used as a co-factor for several essential enzymes in all living organisms. Due to the high toxicity of copper, its metabolism is tightly regulated and defects in this regulation can cause Menkes (deficiency) or Wilson (accumulation) disease in various tissue. CUTC (cutC copper transporter homolog (E. coli)), also known as CGI-32, is a 273 amino acid protein belonging to the cutC family. CUTC is involved in copper homeostasis and is encoded by a gene located on human chromosome 10, which contains over 800 genes and 135 million nucleotides. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. Other chromosome 10 associated disorders include Cockayne syndrome, tetrahydrobiopterin deficiency and trisomy 10.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8215R-A647)
Supplier: Bioss
Description: FAM13C1, also known as FAM13C, is a 585 amino acid protein that belongs to the FAM13 family. Existing as three alternatively spliced isoforms, the gene encoding FAM13C1 maps to human chromosome 10, which contains over 800 genes, 135 million nucleotides and makes up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8215R-A488)
Supplier: Bioss
Description: FAM13C1, also known as FAM13C, is a 585 amino acid protein that belongs to the FAM13 family. Existing as three alternatively spliced isoforms, the gene encoding FAM13C1 maps to human chromosome 10, which contains over 800 genes, 135 million nucleotides and makes up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8215R-CY5)
Supplier: Bioss
Description: FAM13C1, also known as FAM13C, is a 585 amino acid protein that belongs to the FAM13 family. Existing as three alternatively spliced isoforms, the gene encoding FAM13C1 maps to human chromosome 10, which contains over 800 genes, 135 million nucleotides and makes up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterized by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-12385R-A647)
Supplier: Bioss
Description: Inositol polyphosphate multikinase (IPMK) belongs to the inositol phosphokinase (IPK) family and is characterized as having a broad substrate specificity. However, IPMK displays a preference for inositol-1,4,5-trisphosphate (Ins(1,4,5)P3) and inositol 1,3,4,6-tetrakisphosphate (Ins(1,3,4,6)P4). IPMK is ubiquitously expressed with the highest expression in skeletal muscle, liver, placenta, lung, peripheral blood leukocytes, kidney, spleen and colon. IPMK is localized to the nucleus, where it may play a role in the regulation of calcium release from intracellular stores and has been implicated as a drug target for cancer therapies. The gene encoding IPMK maps to human chromosome 10, which contains over 800 genes. Notably, disorders linked to genes on chromosome 10 include Cowden syndrome, Cockayne syndrome and Tetrahydrobiopterin deficiency.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-8215R-A680)
Supplier: Bioss
Description: FAM13C1, also known as FAM13C, is a 585 amino acid protein that belongs to the FAM13 family. Existing as three alternatively spliced isoforms, the gene encoding FAM13C1 maps to human chromosome 10, which contains over 800 genes, 135 million nucleotides and makes up nearly 4.5% of the human genome. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. The chromosome 10 encoded gene ERCC6 is important for DNA repair and is linked to Cockayne syndrome which is characterised by extreme photosensitivity and premature aging. Tetrahydrobiopterin deficiency and a number of syndromes involving defective skull and facial bone fusion are also linked to chromosome 10. As with most trisomies, trisomy 10 is rare and is deleterious.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11784R-CY5)
Supplier: Bioss
Description: SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyzes the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson’s Disease (PD) patients, suggesting that SPR may play a role in PD.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11784R-A680)
Supplier: Bioss
Description: SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyses the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson's Disease (PD) patients, suggesting that SPR may play a role in PD.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11784R-A350)
Supplier: Bioss
Description: SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyzes the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson’s Disease (PD) patients, suggesting that SPR may play a role in PD.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-9773R-A750)
Supplier: Bioss
Description: Enkurin is a 256 amino acid adapter protein that brings signal transduction proteins and transient receptor potential canonical (TRPC) cation channels into contact. Localizing to the acrosomal crescent and flagellar principal piece of sperm, Enkurin contains one IQ domain which it uses to bind CaM (calmodulin). Enkurin is highly expressed in testis and vomeronasal organ, but is also found at lower levels in brain, ovary, heart and lung. The gene encoding Enkurin maps to human chromosome 10, which contains over 800 genes and 135 million nucleotides. PTEN is an important tumour suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. Other chromosome 10 associated disorders include Cockayne syndrome, tetrahydrobiopterin deficiency and trisomy 10.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11784R-FITC)
Supplier: Bioss
Description: SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyzes the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson’s Disease (PD) patients, suggesting that SPR may play a role in PD.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11048R-A350)
Supplier: Bioss
Description: Copper is an essential micronutrient used as a co-factor for several essential enzymes in all living organisms. Due to the high toxicity of copper, its metabolism is tightly regulated and defects in this regulation can cause Menkes (deficiency) or Wilson (accumulation) disease in various tissue. CUTC (cutC copper transporter homolog (E. coli)), also known as CGI-32, is a 273 amino acid protein belonging to the cutC family. CUTC is involved in copper homeostasis and is encoded by a gene located on human chromosome 10, which contains over 800 genes and 135 million nucleotides. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. Other chromosome 10 associated disorders include Cockayne syndrome, tetrahydrobiopterin deficiency and trisomy 10.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11048R-FITC)
Supplier: Bioss
Description: Copper is an essential micronutrient used as a co-factor for several essential enzymes in all living organisms. Due to the high toxicity of copper, its metabolism is tightly regulated and defects in this regulation can cause Menkes (deficiency) or Wilson (accumulation) disease in various tissue. CUTC (cutC copper transporter homolog (E. coli)), also known as CGI-32, is a 273 amino acid protein belonging to the cutC family. CUTC is involved in copper homeostasis and is encoded by a gene located on human chromosome 10, which contains over 800 genes and 135 million nucleotides. PTEN is an important tumor suppressor gene located on chromosome 10 and, when defective, causes a genetic predisposition to cancer development known as Cowden syndrome. Other chromosome 10 associated disorders include Cockayne syndrome, tetrahydrobiopterin deficiency and trisomy 10.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11784R-A647)
Supplier: Bioss
Description: SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyzes the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson’s Disease (PD) patients, suggesting that SPR may play a role in PD.
UOM: 1 * 100 µl


Catalog Number: (BOSSBS-11784R-A750)
Supplier: Bioss
Description: SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyses the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson's Disease (PD) patients, suggesting that SPR may play a role in PD.
UOM: 1 * 100 µl


Catalog Number: (BSENR-148-50)
Supplier: Biosensis
Description: Tyrosine hydroxylase (TH) is the rate-limiting enzyme in the synthesis of the catecholamines dopamine, epinephrine and norepinephrine. Therefore the regulation of the TH enzyme represents the central means for controlling the synthesis of these important catecholamines. FUNCTION: Plays an important role in the physiology of adrenergic neurons. CATALYTIC ACTIVITY: L-tyrosine + tetrahydrobiopterin + O2 = 3,4-dihydroxy-L-phenylalanine + 4a-hydroxytetrahydrobiopterin. COFACTOR: Fe(2+) ion. ENZYME REGULATION: Phosphorylation leads to an increase in the catalytic activity. PATHWAY: Catecholamine biosynthesis; first step. SUBUNIT: Homotetramer. PTM: In vitro, phosphorylation of Ser-19 increases the rate of Ser-40 phosphorylation, which results in enzyme opening and activation. SIMILARITY: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. The presence of different DNA sequences at the TH locus confers susceptibility to various disorders of the brain including manic-depression and schizophrenia. Parkinson's disease is also considered a TH deficiency as low dopamine levels are a consistent neurochemical abnormality.
UOM: 1 * 50 µG


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Stock for this item is limited, but may be available in a warehouse close to you. Please make sure that you are logged in to the site so that available stock can be displayed. If the call is still displayed and you need assistance, please call us on +353 1 88 22222.
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