Hai cercato: leber

Codice catalogo: (BOSSBS-9972R-A750)

Fornitore: Bioss

Codice articolo fornitore: BS-9972R-A750

Codice articolo locale: BOSSBS-9972R-A750

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-3934R-A750)

Fornitore: Bioss

Codice articolo fornitore: BS-3934R-A750

Codice articolo locale: BOSSBS-3934R-A750

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9973R-A680)

Fornitore: Bioss

Codice articolo fornitore: BS-9973R-A680

Codice articolo locale: BOSSBS-9973R-A680

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9972R-A680)

Fornitore: Bioss

Codice articolo fornitore: BS-9972R-A680

Codice articolo locale: BOSSBS-9972R-A680

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-3934R-CY7)

Fornitore: Bioss

Codice articolo fornitore: BS-3934R-CY7

Codice articolo locale: BOSSBS-3934R-CY7

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9575R-FITC)

Fornitore: Bioss

Codice articolo fornitore: BS-9575R-FITC

Codice articolo locale: BOSSBS-9575R-FITC

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9575R-A350)

Fornitore: Bioss

Codice articolo fornitore: BS-9575R-A350

Codice articolo locale: BOSSBS-9575R-A350

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-3934R-FITC)

Fornitore: Bioss

Codice articolo fornitore: BS-3934R-FITC

Codice articolo locale: BOSSBS-3934R-FITC

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-3934R-A680)

Fornitore: Bioss

Codice articolo fornitore: BS-3934R-A680

Codice articolo locale: BOSSBS-3934R-A680

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9973R-A750)

Fornitore: Bioss

Codice articolo fornitore: BS-9973R-A750

Codice articolo locale: BOSSBS-9973R-A750

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-3934R-A555)

Fornitore: Bioss

Codice articolo fornitore: BS-3934R-A555

Codice articolo locale: BOSSBS-3934R-A555

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-3934R-HRP)

Fornitore: Bioss

Codice articolo fornitore: BS-3934R-HRP

Codice articolo locale: BOSSBS-3934R-HRP

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9575R-CY5.5)

Fornitore: Bioss

Codice articolo fornitore: BS-9575R-CY5.5

Codice articolo locale: BOSSBS-9575R-CY5.5

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-12452R-CY7)

Fornitore: Bioss

Codice articolo fornitore: BS-12452R-CY7

Codice articolo locale: BOSSBS-12452R-CY7

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9575R-A555)

Fornitore: Bioss

Codice articolo fornitore: BS-9575R-A555

Codice articolo locale: BOSSBS-9575R-A555

Descrizione: 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

Promo

Codice catalogo: (BOSSBS-9575R-A647)

Fornitore: Bioss

Codice articolo fornitore: BS-9575R-A647

Codice articolo locale: BOSSBS-9575R-A647

Descrizione: 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

Promo