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Bioss
Numéro de catalogue:
(BOSSBS-9973R-A680)
Fournisseur:
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
Numéro de catalogue:
(BOSSBS-9262R-CY3)
Fournisseur:
Bioss
Description:
The RING finger motif is a specialized DNA-binding zinc finger domain found in many transcriptional regulatory proteins. The ring finger protein (RNF) family includes any protein containing the signature RING finger motif. RNF186 (RING finger protein 186) is a 227 amino acid multi-pass membrane protein containing one RING-type zinc finger. The gene encoding RNF186 maps to human chromosome 1p36.13. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12180R-A680)
Fournisseur:
Bioss
Description:
The KIR family of potassium channels possess a greater tendency to allow potassium to flow into the cell rather than out of it. Kir4.1, also known as Kir1.2, is highly expressed in brain including glial cells, astrocytes and cortical neurons. Kir4.1 is also expressed in myelin-synthesizing oligodendrocytes and is crucial to myelination in the developing nervous system. The gene encoding human Kir4.1 maps to chromosome 1. Kir4.2, also known as Kir1.3, is expressed in kidney, lung, heart, thymus and thyroid during development. The gene encoding human Kir4.2 maps to chromosome 21 in the Down syndrome chromosome region 1, and Kir4.2 may play a role in the pathogenesis of Down's syndrome. Kir 5.1 forms functional channels only by coexpression with either Kir4.1 or Kir4.2 in the kidney and pancreas. The gene encoding human Kir5.1 maps to chromosome 17.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5144R-HRP)
Fournisseur:
Bioss
Description:
This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The protein's biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12181R-CY3)
Fournisseur:
Bioss
Description:
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq]
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9698R-A750)
Fournisseur:
Bioss
Description:
Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf195 gene product has been provisionally designated C20orf195 pending further characterisation.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9698R-CY7)
Fournisseur:
Bioss
Description:
Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis, which are thought important for seminal production, and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20. The C20orf195 gene product has been provisionally designated C20orf195 pending further characterization.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9108R-CY5.5)
Fournisseur:
Bioss
Description:
The AAA ATPase family of molecular chaperones are characterized by a highly conserved AAA motif. Composed of 200-250 residues, the AAA domain contains Walker homology sequences and imparts ATPase activity. Members of the AAA ATPase family act as DNA helicases as well as transcription factors and are thought to be involved in several cellular functions such as cell-cycle regulation, protein proteolysis, organelle biogenesis and vesicle-mediated protein transport. Mitochondrial membrane proteins ATAD3A and ATAD3B contribute to the stabilization of nucleoids which are large mitochondrial DNA (mtDNA)-protein complexes. ATAD3A/B may participate in the transformation pathway and the chemosensitivity of oligodendrogliomas. The genes encoding ATAD3A/B/C maps to human chromosome 1, which houses over 3,000 genes and is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1391R-CY7)
Fournisseur:
Bioss
Description:
Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Regulates DNA repair through phosphorylation of BRCA2, enhancing the association of RAD51 with chromatin which promotes DNA repair by homologous recombination. Also stimulates the transcription of genes involved in DNA repair (including BRCA2) through the phosphorylation and activation of the transcription factor FOXM1. Regulates apoptosis through the phosphorylation of p53/TP53, MDM4 and PML. Phosphorylation of p53/TP53 at 'Ser-20' by CHEK2 may alleviate inhibition by MDM2, leading to accumulation of active p53/TP53. Phosphorylation of MDM4 may also reduce degradation of p53/TP53. Also controls the transcription of pro-apoptotic genes through phosphorylation of the transcription factor E2F1. Tumor suppressor, it may also have a DNA damage-independent function in mitotic spindle assembly by phosphorylating BRCA1. Its absence may be a cause of the chromosomal instability observed in some cancer cells.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10092R-CY7)
Fournisseur:
Bioss
Description:
PLAG1 is a transcription factor whose activation results in upregulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with upregulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10092R-FITC)
Fournisseur:
Bioss
Description:
PLAG1 is a transcription factor whose activation results in upregulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with upregulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumor in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukemia.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-2927R-A555)
Fournisseur:
Bioss
Description:
OXSR1 is a serine/threonine kinase which regulates downstream kinases in response to environmental stress such as osmotic stresses, notably sorbitol and, to a lesser extent, NaCl. OXSR1 phosphorylated thr84 within the N-terminal regulatory domain of PAK1. Replacement of thr84 with gln reduced activation of PAK1 by an active form of the small G protein CDC42, suggesting that phosphorylation by OXSR1 modulates the G protein sensitivity of PAK. OXSR1 interacts with chloride channel proteins SLC12A6 isoform 2, SLC12A1 and SLC12A2 but not with SLC12A4 and SLC12A7, possibly establishing sensor/signaling modules that initiate the cellular response to environmental stress. Binds to and phosphorylates RELL1, RELL2 AND RELT. OXSR1 may have a role in regulating the actin cytoskeleton.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-1820R-A680)
Fournisseur:
Bioss
Description:
High Mobility Group (HMG) proteins, a group of chromosomal proteins common to all eukaryotes, bind DNA in a non-sequence-specific fashion to promote chromatin function and gene regulation, helping with transcription, replication, recombination, and DNA repair. HMGB4 is HMG2-like, isoform 2, high-mobility group box 4. This gene can be found on Chromosome 1. HMGB4 contains two HMG-box regions, and is found in a variety of eukaryotic chromosomal proteins. HMGB proteins are phosphorylated to various extents. The existence of differentially modified forms increases the number of distinct HMGB protein variants in plant chromatin that may be adapted to certain functions.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12882R-CY7)
Fournisseur:
Bioss
Description:
Mammalian spermatogenesis is a complex developmental process. Mutations at multiple loci and in structurally and functionally disparate genes in the genome affect gametogenesis. The analysis of mutations has provided insight into biochemical pathways required for completion of this process. The basic protein on Y chromosome 2 gene (BPY2, also designated VCY2) is located in a frequently deleted azoospermia factor c region. Three copies (paralogs) of the BPY2 gene (BPY2A, BPY2B, BPY2C) reside in the AZFc region. BPY2 protein expression is localized to the nuclei of spermatogonia, spermatocytes and round spermatids, but is absent from elongated spermatids. Impaired expression of BPY2 in infertile men suggests its involvement in male germ cell development. BPY2 interacts with MAP-1S, which shares homology with microtubule-associated proteins (MAPs), suggesting a role for BPY2 within the cytoskeletal network.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12540R-A750)
Fournisseur:
Bioss
Description:
ATF2 is a member of the ATF/CREB family of basic region leucine zipper DNA binding proteins that regulates transcription by binding to a consensus cAMP response element (CRE) in the promoter of various viral and cellular genes. Many of these genes are important in cell growth and differentiation, and in stress and immune responses. ATF2 is a nuclear protein that binds DNA as a dimer and can form dimers with members of the ATF/CREB and Jun/Fos families. It is a stronger activator as a heterodimer with cJun than as a homodimer. Several isoforms of ATF2 arise by differential splicing. The stable native full length ATF2 is transcriptionally inactive as a result of an inhibitory direct intramolecular interaction of its carboxy terminal DNA binding domain with the amino terminal transactivation domain. Following dimerization ATF2 becomes a short lived protein that undergoes ubiquitination and proteolysis, seemingly in a protein phosphatase-dependent mechanism. Stimulation of the transcriptional activity of ATF2 occurs following cellular stress induced by several genotoxic agents, inflammatory cytokines, and UV irradiation. This activation requires phosphorylation of two threonine residues in ATF2 by both JNK/SAP kinase and p38 MAP kinase. ATF2 is abundantly expressed in brain.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12543R-A488)
Fournisseur:
Bioss
Description:
ATF-6 is a member of the basic-leucine zipper family of transcription factors. Endoplasmic reticulum stress causes cleavage of transmembrane ATF-6 and transclocation of active ATF-6 to the nucleus. Soluble ATF-6 can exist as either an ATF-6beta homodimer or an ATF-6Alpha/beta heterodimer. Binding of the ATF-6beta homodimer or ATF-6Alpha/beta heterodimer to the nuclear transcription factor Y C (NF-YC) induces ER chaperone transcription.
UOM:
1 * 100 µl
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