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Beschreibung:
Neuronal migration of the central nervous system is a specialized form of cell motility that takes place in the laminar structure of the cortical regions of brain. Astrotactin is a neuronal cell surface protein expressed on postmitotic neuronal precursors in the cerebellum, hippocampus, cerebrum, and olfactory bulb. Astrotactin 2 is a paralog of Astrotactin. Astrotactin mediates neuron-astroglial interactions and is also implicated in synaptic development as well as many other neuronal activities. Astrotactin has three epidermal growth factor repeat domains and two fibronectin type III repeat domains. The human Astrotactin gene shows extensive homology to the mouse Astrotactin gene. Mutations in the Astrotactin gene are linked to neuronal migration defects in both species.
Beschreibung:
Neuronal migration of the central nervous system is a specialized form of cell motility that takes place in the laminar structure of the cortical regions of brain. Astrotactin is a neuronal cell surface protein expressed on postmitotic neuronal precursors in the cerebellum, hippocampus, cerebrum, and olfactory bulb. Astrotactin 2 is a paralog of Astrotactin. Astrotactin mediates neuron-astroglial interactions and is also implicated in synaptic development as well as many other neuronal activities. Astrotactin has three epidermal growth factor repeat domains and two fibronectin type III repeat domains. The human Astrotactin gene shows extensive homology to the mouse Astrotactin gene. Mutations in the Astrotactin gene are linked to neuronal migration defects in both species.
Beschreibung:
Oligodendrocyte Marker The classic group of Myelin basic protein (MBP) isoforms (isoforms 4 to 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non classic group of MBP isoforms (isoforms 1 to 3/Golli MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T cells and neural cells. Differential splicing events combined to optional posttranslational modifications give a wide spectrum of isomers, each of them having maybe a specialized function.
Beschreibung:
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. Two alternatively spliced variants of this gene encoding distinct isoforms have been reported.
Beschreibung:
The classic group of MBP isoforms (isoform 4-isoform 14) are with PLP the most abundant protein components of the myelin membrane in the CNS. They have a role in both its formation and stabilization. The smaller isoforms might have an important role in remyelination of denuded axons in multiple sclerosis. The non-classic group of MBP isoforms (isoform 1-isoform 3/Golli-MBPs) may preferentially have a role in the early developing brain long before myelination, maybe as components of transcriptional complexes, and may also be involved in signaling pathways in T-cells and neural cells. Differential splicing events combined with optional post-translational modifications give a wide spectrum of isomers, with each of them potentially having a specialized function. Induces T-cell proliferation.
Beschreibung:
Beta-tectorin is a 329 amino acid secreted protein that contains one zona pellucida (ZP) domain. While it may form homomeric filaments after self-association, Beta-tectorin may also form heteromeric filaments when it associates with ?tectorin. The presence of a hydrophobic C-terminus preceded by a potential cleavage site strongly suggests that tectorins are synthesized as glycosylphosphatidylinositol-linked, membrane-bound precursors. Tectorins are targeted to the apical surface of the inner ear epithelia and proteolytically released into the extracellular compartment. Beta-tectorin is one of the major non-collagenous components of the tectorial membrane. The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.
Beschreibung:
Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.Involvement in disease:Defects in SHOC2 are the cause of Noonan syndrome-like with loose anagen hair (NSLAH) . NSLAH children display macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck and pectus anomalies. Affected subjects also have easily pluckable, sparse, thin and slow-growing hair.
Beschreibung:
Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.Involvement in disease:Defects in SHOC2 are the cause of Noonan syndrome-like with loose anagen hair (NSLAH) . NSLAH children display macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck and pectus anomalies. Affected subjects also have easily pluckable, sparse, thin and slow-growing hair.
Beschreibung:
Members of the myogenic determination family are basic helix-loop-helix (bHLH) proteins that can be separated into two classes, both of which work together to activate DNA transcription. Class A proteins include the ubiquitously expressed E-box binding factors, namely E2A, ITF-2 and HEB, while class B proteins, such as MyoD, myogenin and Neuro D (BETA2), are transiently expressed and exhibit a much more limited tissue distribution. Working in opposition to these positively acting factors are a specialized group of basic helix-loop-helix (bHLH) transcription factors that function as dominant negative regulators and are involved in cell lineage determination and differentiation. Neuro D2 (neurogenic differentiation 2), also known as NDRF, NEUROD2 or bHLHa1, is a 382 amino acid nuclear protein that contains one bHLH domain and functions to induce neurogenic differentiation, playing an important role in the maintenance and determination of cell fate.
Beschreibung:
Neuronal migration of the central nervous system is a specialized form of cell motility that takes place in the laminar structure of the cortical regions of brain. Astrotactin is a neuronal cell surface protein expressed on postmitotic neuronal precursors in the cerebellum, hippocampus, cerebrum, and olfactory bulb. Astrotactin 2 is a paralog of Astrotactin. Astrotactin mediates neuron-astroglial interactions and is also implicated in synaptic development as well as many other neuronal activities. Astrotactin has three epidermal growth factor repeat domains and two fibronectin type III repeat domains. The human Astrotactin gene shows extensive homology to the mouse Astrotactin gene. Mutations in the Astrotactin gene are linked to neuronal migration defects in both species.
Beschreibung:
Talin, a multifunctional constituent of cell-substratum attachment sites, is a high molecular weight protein (225-270 kDa) found in variety of tissues and cell types. It is localized at a subset of adherens junctions, specialized cell-cell and cell-matrix associations that are characterized by the presence of filamentous actin at the cytoplasmic face of the junctional complex. In cultured cells, talin is absent from cell-cell junctions and found predominantly at adhesion plaques and in fibrillar streaks underlying cell surface fibronectin. Talin interacts with at least two other proteins that are localized at adhesion plaques, vinculin and integrin. Talin and vinculin have been shown to interact with each other and both have been proposed to be involved in generating the transmembrane connection, between the extracellular matrix and the cytoskeleton, that occurs at adhesion plaques. At physiological ionic strength, talin is an elongate, flexible, monomeric protein with the ability to self-associate into dimers at higher protein concentrations.
Beschreibung:
Water is a critical component of all living cells. Interestingly, tissue membranes show a great degree of water permeability. Mammalian red cells, renal proximal tubules, and descending thin limb of Henle are extraordinarily permeable to water. Water crosses hydrophobic plasma membranes either by simple diffusion or through a facilitative transport mechanism mediated by special protein aquaporins. Aquaporin 0 or MIP26 (major intrinsic protein 26kD), and Aquaporin 1 has been the foundation of the growing family of aquaporins. The lens specific Aquaporin 0 represents up to 80% of total lens membrane protein. Defects in Aquaporin 0 are a cause of autosomal recessive congenital cataract. The lens opacity mutation (LOP) is an AA substitution that inhibits targeting of MIP to the cell membrane. Human Aquaporin 0 is a 263 amino acid transmembrane protein belonging to the MIP family. Aquaporin families of proteins are predicted to contain six transmembrane domains. The N and C terminus are predicted to be cytoplasmic.
Beschreibung:
Water is a critical component of all living cells. Interestingly, tissue membranes show a great degree of water permeability. Mammalian red cells, renal proximal tubules, and descending thin limb of Henle are extraordinarily permeable to water. Water crosses hydrophobic plasma membranes either by simple diffusion or through a facilitative transport mechanism mediated by special protein aquaporins. Aquaporin 0 or MIP26 (major intrinsic protein 26kD), and Aquaporin 1 has been the foundation of the growing family of aquaporins. The lens specific Aquaporin 0 represents up to 80% of total lens membrane protein. Defects in Aquaporin 0 are a cause of autosomal recessive congenital cataract. The lens opacity mutation (LOP) is an AA substitution that inhibits targeting of MIP to the cell membrane. Human Aquaporin 0 is a 263 amino acid transmembrane protein belonging to the MIP family. Aquaporin families of proteins are predicted to contain six transmembrane domains. The N and C terminus are predicted to be cytoplasmic.
Beschreibung:
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein shares a similar domain structure with CARD11 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. Two alternatively spliced variants of this gene encoding distinct isoforms have been reported.
Beschreibung:
Regulatory subunit of protein phosphatase 1 (PP1c) that acts as a M-Ras/MRAS effector and participates in MAPK pathway activation. Upon M-Ras/MRAS activation, targets PP1c to specifically dephosphorylate the 'Ser-259' inhibitory site of RAF1 kinase and stimulate RAF1 activity at specialized signaling complexes.Involvement in disease:Defects in SHOC2 are the cause of Noonan syndrome-like with loose anagen hair (NSLAH) . NSLAH children display macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck and pectus anomalies. Affected subjects also have easily pluckable, sparse, thin and slow-growing hair.
VE:
1 * 100 µl
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,BOSSBS-7934R-HRPEA
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