You Searched For: leber

Catalog Number: (BOSSBS-3934R-A750)

Supplier: Bioss

Description: Cytochrome C Oxidase subunits I, II and III form the functional core of the enzyme complex.Defects in Cytochrome C Oxidase subunits III are a cause of Leber hereditary optic neuropathy (LHON) and cytochrome c oxidase deficiency (COX deficiency). Defects in Cytochrome C Oxidase subunits III are also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and recurrent myoglobinuria.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-9972R-A680)

Supplier: Bioss

Description: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-9575R-A350)

Supplier: Bioss

Description: The retinal pigment epithelium (RPE) is a monolayer simple epithelium in proximity to the outer surface of the retinal photoreceptor cells. Retinal pigment epithelium-specific protein (RPE65) is a 65 kDa protein belonging to the β-carotene dioxygenase family. This protein is important in 11-cis retinal production as well as in visual pigment regeneration. RPE65 is attached to the membrane by a lipid anchor when palmitoylated (membrane form) and soluble when unpalmitoylated. The soluble form of the protein binds vitamin A. Defects in RPE65 causes autosomal dominant retinitis pigmentosa and/or Leber congenital amaurosis type 2.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-9575R-FITC)

Supplier: Bioss

Description: The retinal pigment epithelium (RPE) is a monolayer simple epithelium in proximity to the outer surface of the retinal photoreceptor cells. Retinal pigment epithelium-specific protein (RPE65) is a 65 kDa protein belonging to the β-carotene dioxygenase family. This protein is important in 11-cis retinal production as well as in visual pigment regeneration. RPE65 is attached to the membrane by a lipid anchor when palmitoylated (membrane form) and soluble when unpalmitoylated. The soluble form of the protein binds vitamin A. Defects in RPE65 causes autosomal dominant retinitis pigmentosa and/or Leber congenital amaurosis type 2.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-9973R-A750)

Supplier: Bioss

Description: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-9973R-A680)

Supplier: Bioss

Description: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-13209R-CY5)

Supplier: Bioss

Description: FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-13209R)

Supplier: Bioss

Description: FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.

UOM: 1 * 100 µl

Sale

Catalog Number: (BOSSBS-9972R-A750)

Supplier: Bioss

Description: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-3934R-A488)

Supplier: Bioss

Description: Cytochrome C Oxidase subunits I, II and III form the functional core of the enzyme complex.Defects in Cytochrome C Oxidase subunits III are a cause of Leber hereditary optic neuropathy (LHON) and cytochrome c oxidase deficiency (COX deficiency). Defects in Cytochrome C Oxidase subunits III are also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and recurrent myoglobinuria.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-3934R-CY7)

Supplier: Bioss

Description: Cytochrome C Oxidase subunits I, II and III form the functional core of the enzyme complex.Defects in Cytochrome C Oxidase subunits III are a cause of Leber hereditary optic neuropathy (LHON) and cytochrome c oxidase deficiency (COX deficiency). Defects in Cytochrome C Oxidase subunits III are also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and recurrent myoglobinuria.

UOM: 1 * 100 µl

Sale

Catalog Number: (BOSSBS-13209R-A350)

Supplier: Bioss

Description: FOXRED1 is a 486 amino acid single-pass membrane protein. Utilizing FAD as a cofactor, FOXRED1 may act as a chaperone protein essential for the function of mitochondrial complex I. Mutations to FOXRED1 may result in mitochondrial complex I deficiency (MT-C1D), which results in a wide range of clinical maladies from lethal neonatal disease to adult onset neurodegenerative disorders. Common phenotypes of MT-C1D include cardiomyopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. FOXRED1 exists as three alternatively spliced isoforms and is encoded by a gene mapping to human chromosome 11q24.2. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome.

UOM: 1 * 100 µl

Sale

Catalog Number: (BOSSBS-3934R-A680)

Supplier: Bioss

Description: Cytochrome C Oxidase subunits I, II and III form the functional core of the enzyme complex.Defects in Cytochrome C Oxidase subunits III are a cause of Leber hereditary optic neuropathy (LHON) and cytochrome c oxidase deficiency (COX deficiency). Defects in Cytochrome C Oxidase subunits III are also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and recurrent myoglobinuria.

UOM: 1 * 100 µl

Sale

Catalog Number: (BOSSBS-3934R-FITC)

Supplier: Bioss

Description: Cytochrome C Oxidase subunits I, II and III form the functional core of the enzyme complex.Defects in Cytochrome C Oxidase subunits III are a cause of Leber hereditary optic neuropathy (LHON) and cytochrome c oxidase deficiency (COX deficiency). Defects in Cytochrome C Oxidase subunits III are also found in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and recurrent myoglobinuria.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-12452R-CY7)

Supplier: Bioss

Description: The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilization, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness.

UOM: 1 * 100 µl

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Catalog Number: (BOSSBS-12452R-A680)

Supplier: Bioss

Description: The inherited blindness associated protein, aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), interacts with the cell cycle regulator protein NUB1. AIPL1 is crucial for protein folding and stabilisation, as well as for protein trafficking. It localizes to the nucleus or cytoplasm and is highly expressed in the pineal gland and the retina. In the retina, AIPL1 is expressed in both developing cone and rod photoreceptors, but it is restricted to rod photoreceptors in the adult human retina. Defects in the gene encoding for AIPL1 can cause Leber congenital amaurosis type IV, an early-onset, inherited autosomal recessive disorder that results in childhood blindness.

UOM: 1 * 100 µl

Sale