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Inherited Diseases

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Cytokeratin (keratin Antibody) K10-1 (AE20) - Mouse Anti-Cytokeratin (keratin) K10.1 0.1 ml
Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens
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Cytokeratin (keratin) K13 Antibody (AE8) - Mouse Anti-Cytokeratin (keratin) K13, AE8 0.1ml
Cytokeratin 13 is a member of the keratin gene family The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus This antibody is specific for Cytokeratin 13 which is a marker for oesophageal type differentiation which is expressed by various internal stratified epithelia
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Cytokeratin (keratin) K2 (AE3) Antibody- Mouse Anti-Cytokeratin (keratin) K2 (AE3)
Cytokeratins, a group of at least 29 different proteins, are characteristic of epithelial and trichocytic cells. Cytokeratins 4, 5, 6 and 8 are members of the type II neutral-to-basic subfamily. Cytokeratin peptide 4 (59 kDa) is the secondary type II keratin expressed in non cornified stratified squamous epithelia. Cytokeratin peptide 5 (58 kDa) is the primary type II keratin in stratified epithelia, while cytokeratin type 8 (52 kDa) is a major type II keratin in simple epithelia. Cytokeratin 6 (56 kDa) is a "hyperproliferation" cytokeratin expressed in tissues with natural or pathological high turnover. Cytokeratins 10, 13 and 18 are members of the type I acidic subfamily. Cytokeratin peptide 10 (56 kDa) is the secondary type I keratin expressed in cornified epithelia. Cytokeratin 13 (54 kDa) is the secondary type I keratin expressed in non-cornified stratified squamous epithelia. Cytokeratin 18 (45 kDa) is the primary type I keratin expressed in simple epithelial cells.
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Cytokeratin (keratin) K3 (AE5) Antibody- Mouse Anti-Cytokeratin (keratin) K3, AE5
Cytokeratin 3 belongs to the intermediate filament family. It is a type II cytokeratin and is specifically expressed in the corneal epithelium. Cytokeratin 3 associates with Cytokeratin 12. Defects in Cytokeratin 3 are a cause of Meesmann corneal dystrophy.
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Cytokeratin Antibody (keratin) K1 type I (AE1) - Mouse Anti-Cytokeratin (keratin) K1 type I (AE1) 0.2ml
Twenty human keratins are resolved with two-dimensional gel electrophoresis into acidic (pI <57) and basic (pI >60) subfamilies The acidic keratins have molecular weights of 565 55 51 50 50 48 46 45 and 40kDa The basic keratins have molecular weights of 65 - 67 64 59 58 56 and 52kDa Members of acidic and basic subfamilies are found together in pairs The composition of keratin pairs varies with cell type differentiation status and environment Many studies have shown the usefulness of keratins as markers in cancer research and tumor diagnosis
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Cytokeratin from Hair Cortex (AE13) Antibody- Mouse Anti-Cytokeratin from Hair Cortex, AE13
The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q212
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Emerin Antibody - Goat Anti-Emerin
Emerin is a serine rich nuclear membrane protein and a member of the nuclear lamina associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene
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Emerin Antibody- Rabbit Anti-Emerin
Emerin is a serine rich nuclear membrane protein and a member of the nuclear lamina associated protein family It mediates membrane anchorage to the cytoskeleton Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene
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Emerin Antibody- Sheep Anti-Emerin
Emerin is a serine rich nuclear membrane protein and a member of the nuclear lamina associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene
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FMR1 (Drosophila) Antibody- Mouse (monoclonal) Anti-FMR1
Fragile X syndrome is the most common inherited form of mental retardation It is caused by loss of FMR1 gene activity due to either lack of expression or expression of a mutant form of the protein In mammals FMR1 is a member of a small protein family that consists of FMR1 FXR1 and FXR2 All three members bind RNA and contain sequence motifs that are commonly found in RNA-binding proteins including two KH domains and an RGG boxThe Drosophila genome contains a single gene homologous to the FXR family dFMR1 is subjected to transcriptional and posttranscriptional regulation during development and it homomerizes like its human counterpart dFMR1 profile of expression recapitulates that of the human FXR protein family it is highly enriched in muscles in central nervous system and in gonads In the larval brain anti-dFMR1 also recognizes mushroom bodies a centre that mediates learning and memory These features make the fly an ideal system to analyse the role of the FXR family and to identify genes in the FMRP pathway
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FMR1 (Drosophila) Antibody- Mouse Anti-FMR1 (Drosophila)
Fragile X syndrome is the most common inherited form of mental retardation It is caused by loss of FMR1 gene activity due to either lack of expression or expression of a mutant form of the protein In mammals FMR1 is a member of a small protein family that consists of FMR1 FXR1 and FXR2 All three members bind RNA and contain sequence motifs that are commonly found in RNA-binding proteins including two KH domains and an RGG boxThe Drosophila genome contains a single gene homologous to the FXR family dFMR1 is subjected to transcriptional and posttranscriptional regulation during development and it homomerizes like its human counterpart dFMR1 profile of expression recapitulates that of the human FXR protein family it is highly enriched in muscles in central nervous system and in gonads In the larval brain anti-dFMR1 also recognizes mushroom bodies a centre that mediates learning and memory These features make the fly an ideal system to analyse the role of the FXR family and to identify genes in the FMRP pathway
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FXR2 Antibody- Mouse Anti-FXR2
FXR2 is a RNA binding protein containing two KH domains and one RCG box which is similar to FMRP and FXR1 It associates with polyribosomes predominantly with 60S large ribosomal subunits It may self-associate or interact with FMRP and FXR1 Fragile X syndrome is caused by the absence of the fragile X mental-retardation protein (FMRP) FMRP is the archetype of a class of cytoplasmic mRNA-binding proteins that includes the fragile X-related 1 and 2 proteins (FXR1 and FXR2) The fragile X-related proteins FXR1 and FXR2 contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
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FXR2 Antibody- Mouse Anti-FXR2
FXR2 is a RNA binding protein containing two KH domains and one RCG box which is similar to FMRP and FXR1 It associates with polyribosomes predominantly with 60S large ribosomal subunits It may self-associate or interact with FMRP and FXR1 Fragile X syndrome is caused by the absence of the fragile X mental-retardation protein (FMRP) FMRP is the archetype of a class of cytoplasmic mRNA-binding proteins that includes the fragile X-related 1 and 2 proteins (FXR1 and FXR2) The fragile X-related proteins FXR1 and FXR2 contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins
£183.00

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GAD65 Antibody- Mouse Anti-GAD65
Glutamic Acid Decarboxylase (GAD) catalyzes the conversion of L glutamate to g-aminobutyric acid (GABA), the principal inhibitory neurotransmitter in the brain, and a putative paracrine signal molecule in pancreatic islets. GAD has a restricted tissue distribution. It is highly expressed in the cytoplasm of GABAergic neurons in the central nervous system (CNS) and pancreatic beta cells. It is also present in other non-neuronal tissues such as testis, oviduct and ovary. GAD is also transiently expressed in non-GABAergic cells of the embryonic and adult nervous system, suggesting its involvement in development and plasticity. GAD exists as two isoforms, GAD65 and GAD67 (molecular masses of 65 and 67 kD, respectively) that are encoded by two different genes. GAD65 is an ampiphilic, membraneanchored protein, (585 amino acid residues) and is encoded on human chromosome 10. GAD67 is a cytoplasmic protein (594 amino acid residues) and is encoded on chromosome 2. There is 64% amino acid identity between the two isoforms, with the highest diversity located at the N terminus, which in GAD65 is required for targeting the enzyme to GABA-containing secretory vesicles. The two isoforms appear to have distinct intraneuronal distribution in the brain. GAD65 has been identified as an autoantigen in insulindependent diabetes mellitus (IDDM) and stiff-man syndrome (SMS), IDDM is an autoimmune disease that results from T cell mediated destruction of pancreatic insulin-secreting beta cells. Islet-reactive T cells and antibodies primarily to GAD65 (also named beta cell autoantigen) can be detected in peripheral blood of 80% of recent-onset IDD patients and in pre-diabetic high-risk subjects before onset of clinical symptoms. This suggests that GAD may be an important marker in the early stages of the disease. Also, autoantibodies to GAD65 and GAD67 are detected in animal models of IDDM, including the non-obese diabetes (NOD) mouse. In the NOD mouse, T cell reactivity is initially restricted to the C terminal regions of GAD65, but later spreads to other parts of GAD65. Stiff-man syndrome (SMS), a rare disorder of the CNS, is characterized by progressive rigidity of the body musculature with painful spasms, due to impairment of the GABAergic neurotransmission. High-titer autoantibodies directed against GAD 65 and GABAergic neurons (nerve terminals) have been detected in the serum and cerebrospinal fluid (CSF) in 60% of patients with the syndrome. Strikingly, many of the SMS patients also developed late-onset IDDM.
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gp210 (C-terminal) Antibody- Rabbit Anti-gp210 (C-terminal)
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. GP210 is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex, it is an evolutionarily conserved and has early roles in nuclear pore formation and mediates pore dilation with its tail-binding partners
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gp210 (N-terminal) Antibody- Rabbit Anti-gp210 (N-terminal)
The nuclear pore complex is a massive structure that extends across the nuclear envelope forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells GP210 is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex it is an evolutionarily conserved and has early roles in nuclear pore formation and mediates pore dilation with its tail-binding partners
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