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Numéro de catalogue: (BOSSBS-3239R-A555)

Fournisseur:  Bioss
Description:   The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21.<be>This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008].
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9261R-A555)

Fournisseur:  Bioss
Description:   The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF185 (ring finger protein 185), also known as FLJ38628, is a 192 amino acid multi-pass membrane protein containing one RING-type zinc finger. Two RNF185 isoforms exist as a result of alternative splicing, and the gene encoding RNF185 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-6130R-A555)

Fournisseur:  Bioss
Description:   RbAp48 (Retinoblastoma-binding protein p48 or Rb-associated protein p48)is a WD repeat protein that is a core histone binding subunit common to several complexes involved in chromatin assembly, chromatin remodeling, and histone deacetylation. These complexes include Chromatin Assembly Factor 1 (CAF1), which is required for chromatin assembly following DNA replication and repair, the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and subsequent transcriptional repression, the nucleosome remodeling and histone deacetylation complex NuRD, the nucleosome remodeling factor (NURF) complex, and the PRC2 complex, which promotes repression of homeotic genes during development. RpAp48 also interacts with the retinoblastoma protein, and with SPEN/MINT and BRCA1. It is also a component of the DREAM complex, which represses cell cycle-dependent genes in quiescent cells.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The Six proteins (sine oculis) are a family of homeodomain transcription factors that share a conserved DNA binding domain. Six3 is required for the specification and proliferation of the eye field in vertebrates and may be involved in some developmental disorders of the brain. Expression of Six3 is detected in human embryos as early as five to seven weeks of gestation, and is maintained in the eye throughout the entire period of fetal development. At 20 weeks of gestation, expression of Six3 in the human retina has been observed in ganglion cells and in cells of the inner nuclear layer. Six3 maps to human chromosome 2p16-p21, between genetic markers D2S119 and D2S288. The map position of human Six3 overlaps the positions of two dominant disorders (holoprosencephaly type 2 and Malattia leventinese) with ocular phenotypes that have been assigned to this chromosomal region.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11970R-A350)

Fournisseur:  Bioss
Description:   The Six proteins (sine oculis) are a family of homeodomain transcription factors that share a conserved DNA binding domain. Six3 is required for the specification and proliferation of the eye field in vertebrates and may be involved in some developmental disorders of the brain. Expression of Six3 is detected in human embryos as early as five to seven weeks of gestation, and is maintained in the eye throughout the entire period of fetal development. At 20 weeks of gestation, expression of Six3 in the human retina has been observed in ganglion cells and in cells of the inner nuclear layer. Six3 maps to human chromosome 2p16-p21, between genetic markers D2S119 and D2S288. The map position of human Six3 overlaps the positions of two dominant disorders (holoprosencephaly type 2 and Malattia leventinese) with ocular phenotypes that have been assigned to this chromosomal region.
UOM:  1 * 100 µl

Fournisseur:  Bioss
Description:   The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-11963R-A350)

Fournisseur:  Bioss
Description:   There are three SorCS genes that have diverse, partially overlapping functions in the central nervous system. In the developing and mature central nervous system, SorCS1, SorCS2 and SorCS3 genes are expressed in a combinatorial, non-overlapping pattern. SorCS proteins show homology to the mosaic receptor SorLA and the neurotensin receptor sortilin, based on a common VPS10 domain, which is the hallmark of the SorCS receptor family. SorCS2 (sortilin-related VPS10 domain containing receptor 2) is a 1,150 amino acid single-pass type I membrane protein that is highly expressed in brain and kidney. Containing six BNR repeats and a single PKD domain, SorCS2 is encoded by a gene that maps to human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-7648R-CY3)

Fournisseur:  Bioss
Description:   Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of these variants has not been determined. [provided by RefSeq, Jul 2008].
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9496R-A350)

Fournisseur:  Bioss
Description:   C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-9496R-A555)

Fournisseur:  Bioss
Description:   C9orf150 is a 231 amino acid protein encoded by a gene that maps to human chromosome 9p23. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8215R-A488)

Fournisseur:  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
Numéro de catalogue: (BOSSBS-8215R-A647)

Fournisseur:  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
Numéro de catalogue: (BOSSBS-8215R-CY5)

Fournisseur:  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

Fournisseur:  Bioss
Description:   The MAGUK (membrane-associated guanylate kinase homologs) family of proteins contain multiple protein-binding domains and are involved in cell junction organization, tumor suppression, and signaling. CASK (also designated LIN-2) belongs to a MAGUK subfamily which is characterized by a novel domain structure that consists of a calcium/calmodulin- dependent protein kinase domain followed by PDZ, SH3 and guanylate kinase-like (GUK) domains. CASK is expressed in rat brain where it binds to cell-surface proteins, such as neurexin and syndecan, and is thought to be involved in signaling at neuronal synapses. CASK translocates to the nucleus and interacts with Tbr-1 to form a complex, which binds to a specific DNA sequence (the T-element), and induces the expression of specific genes, including Reelin. CASK displays a transcription regulation function, which appears crucial for cerebrocortical development.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-3531R-CY5.5)

Fournisseur:  Bioss
Description:   Protein Kinase c alpha (PKC alpha) is an 77 kDa member of the conventional group (cPKCs: sensitive to calcium, diacylglycerol, phosphatidylserine and phorbol esters) of the PKC family of serine/ threonine kinases that are involved in a wide range of physiological processes including mitogenesis, cell survival and transcriptional regulation. PKC alpha is an ubiquitously expressed PKC isozyme that has been implicated in the regulation of a broad range of cellular functions including proliferation, differentiation, development, migration, cell cell adhesion, cell extracellular matrix adhesion, and solute transport. The activation loop threonine (threonine 497 in PKC alpha) of conventional PKCs is phosphorylated by phosphoinositide dependent kinase 1 (PDK1). This phosphorylation is necessary for the autophosphorylation of threonine 638 in the carboxy terminus of PKC alpha, a step that is critical for regulating the rate of PKC alpha dephosphorylation and inactivation.
UOM:  1 * 100 µl
Numéro de catalogue: (BOSSBS-8867R-CY3)

Fournisseur:  Bioss
Description:   GHRH-R is a seven transmembrane domain protein that localizes to the somatotroph of the pituitary. GHRH-R plays an important role in growth and acts as a high-affinity receptor for GHRH. Binding of GHRH leads to the coupling of GHRH-R to G-protein which stimulates increased adenylyl cyclase activity and the accumulation of cAMP leading to the synthesis and release of growth hormone and somatotroph proliferation. In addition, this signalling pathway may have direct action in fetal/placental development, reproduction and immune function. GHRH and GHRH-R may also play a role in the regulation of non-rapid eye movement sleep (NREMS). The expression of GHRH-R is dependent on the presence of the POU domain factor Pit-1. Mutations in the gene encoding this protein can result in isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, and anterior pituitary hypoplasia (APH).
UOM:  1 * 100 µl
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