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Catalogus nummer: (BOSSBS-9626R-A750)

Leverancier: Bioss

Omschrijving: RPUSD2, is a 545 amino acid member of the pseudouridine synthase rluA family and is encoded by a gene that is located on chromosome 15. Encoding more than 700 genes, chromosome 15 is made up of approximately 106 million base pairs and is about 3% of the human genome. Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.

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Catalogus nummer: (BOSSBS-5907R-A488)

Leverancier: Bioss

Omschrijving: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).

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Catalogus nummer: (BOSSBS-10067R-A750)

Leverancier: Bioss

Omschrijving: Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces.

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Catalogus nummer: (BOSSBS-3541R-A350)

Leverancier: Bioss

Omschrijving: Pin1 is a Peptidyl-prolyl isomerases (PPIase). Peptidyl-prolyl isomerases (PPIase) facilitate the cis-trans interconversion of the peptidyl-prolyl bond thereby affecting protein folding. Pin1 is a PPIase which specifically recognizes phosphorylated S/T-P bonds. Pin1 has been implicated in tau pathologies that underlie Alzheimer's Disease. Pin1 binds to tau phosphorylated specifically on the Thr231-Pro site and induces conformational changes in tau. Such conformational changes can directly restore the ability of phosphorylated Tau to bind microtubules and promote microtubule assembly and/or facilitate tau dephosphorylation. Pin1 expression inversely correlates with the predicted neuronal vulnerability in normally aged brain and also with actual neurofibrillary degeneration in AD brain. Pin1 could be pivotal for maintainance of normal neuronal function and preventing age-dependent neurodegeneration.

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Catalogus nummer: (BOSSBS-9609R-A750)

Leverancier: Bioss

Omschrijving: Proteins containing RNA recognition motifs, including various hnRNP proteins, are implicated in the regulation of alternative splicing and protein components of snRNPs. The RBM (RNA-binding motif) gene family encodes proteins with an RNA binding motif that have been suggested to play a role in the modulation of apoptosis. RBM26 (RNA binding motif protein 26), whose alternative names include CTCL tumour antigen se70-2, C13orf10, ARRS2, SE70-2, ZC3H17, PRO1777, FLJ20957, RP11-255E21.1, MGC133295 or MGC133296, is a 1,007 amino acid protein with six isoforms which result due to alternative splicing. RBM26 also contains one C3H1-type zinc finger and two RRM (RNA recognition motif) domains. The gene encoding RBM26 maps to human chromosome 13q31.1.

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Catalogus nummer: (BOSSBS-13534R-A680)

Leverancier: Bioss

Omschrijving: Receptor for the neuroprotective and glioprotective factor prosaposin. Ligand binding induces endocytosis, followed by an ERK phosphorylation cascade.

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Catalogus nummer: (BOSSBS-3325R-A680)

Leverancier: Bioss

Omschrijving: Coagulation factor II (thrombin) receptor-like 3 (F2RL3) is a member of the large family of 7-transmembrane-region receptors that couple to guanosine-nucleotide-binding proteins. F2RL3 is also a member of the protease-activated receptor family. F2RL3 is activated by proteolytic cleavage of its extracellular amino terminus. The new amino terminus functions as a tethered ligand and activates the receptor. F2RL3 is activated by thrombin and trypsin.

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Catalogus nummer: (BOSSBS-15176R-A647)

Leverancier: Bioss

Omschrijving: C3orf36 (chromosome 3 open reading frame 36), also known as FLJ22173, MGC125760 or MGC125761, is a 165 amino acid protein encoded by a gene that maps to human chromosome 3p25.3. Chromosome 3 is made up of approximately 214 million bases encoding over 1,100 genes. Notably, there is a chemokine receptor gene cluster and a variety of human cancer related loci on chromosome 3. Particular regions of the chromosome 3 short arm are deleted in many types of cancer cells. Key tumor suppressing genes on chromosome 3 encode apoptosis mediator RASSF1, cell migration regulator HYAL1 and angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth disease are a few of the numerous genetic diseases associated with chromosome 3.

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Catalogus nummer: (BOSSBS-2976R-A680)

Leverancier: Bioss

Omschrijving: Cleaves the gamma-glutamyl bond of extracellular glutathione (gamma-Glu-Cys-Gly), glutathione conjugates, and other gamma-glutamyl compounds. The metabolism of glutathione releases free glutamate and the dipeptide, cysteinyl-glycine, which is hydrolysed to cysteine and glycine by dipeptidases. In the presence of high concentrations of dipeptides and some amino acids, can also catalyse a transpeptidation reaction, transferring the gamma-glutamyl moiety to an acceptor amino acid to form a new gamma-glutamyl compound. Initiates extracellular glutathione (GSH) breakdown, provides cells with a local cysteine supply and contributes to maintain intracellular GSH level. It is part of the cell antioxidant defence mechanism. Isoform 3 seems to be inactive.

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Catalogus nummer: (BOSSBS-11874R-A555)

Leverancier: Bioss

Omschrijving: Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T cells signaling pathway.

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Catalogus nummer: (BOSSBS-1373R-A750)

Leverancier: Bioss

Omschrijving: Iron-trafficking protein involved in multiple processes such as apoptosis, innate immunity and renal development. Binds iron through association with 2,5-dihydroxybenzoic acid (2,5-DHBA), a siderophore that shares structural similarities with bacterial enterobactin, and delivers or removes iron from the cell, depending on the context. Iron-bound form (holo-24p3) is internalized following binding to the SLC22A17 (24p3R) receptor, leading to release of iron and subsequent increase of intracellular iron concentration. In contrast, association of the iron-free form (apo-24p3) with the SLC22A17 (24p3R) receptor is followed by association with an intracellular siderophore, iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration. Involved in apoptosis due to interleukin-3 (IL3) deprivation: iron-loaded form increases intracellular iron concentration without promoting apoptosis, while iron-free form decreases intracellular iron levels, inducing expression of the proapoptotic protein BCL2L11/BIM, resulting in apoptosis. Involved in innate immunity, possibly by sequestrating iron, leading to limit bacterial growth.

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Catalogus nummer: (BOSSBS-6075R-A750)

Leverancier: Bioss

Omschrijving: May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton.

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Catalogus nummer: (BOSSBS-1057R-A488)

Leverancier: Bioss

Omschrijving: alpha3beta1 integrin is a laminin receptor with apparently diverse functions. In epithelial cells it acts as a receptor for the basement membrane, whereas in neuronal and possibly tumor cells it mediates migration. Interactions of alpha3beta1 integrin with tetraspanin proteins may provide clues to how it transduces signals that affect cell behavior.

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Catalogus nummer: (BOSSBS-5181R-A555)

Leverancier: Bioss

Omschrijving: The protein encoded by this gene is a member of the receptor tyrosine kinase subfamily. Although it is similar to other receptor tyrosine kinases, the Axl protein represents a unique structure of the extracellular region that juxtaposes IgL and FNIII repeats. It transduces signals from the extracellular matrix into the cytoplasm by binding growth factors such as vitamin K dependent protein growth arrest specific gene 6. It is involved in the stimulation of cell proliferation. This receptor can also mediate cell aggregation by homophilic binding. Axl is a chronic myelogenous leukemia associated oncogene and also associated with colon cancer and melanoma.The Axl gene is evolutionarily conserved between vertebrate species. This gene has two different alternatively spliced transcript variants (AXL1 and AXL2).

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Catalogus nummer: (BOSSBS-3665R-A750)

Leverancier: Bioss

Omschrijving: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly-217' bond. Overexpression promotes programmed cell death.

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Catalogus nummer: (BOSSBS-6710R-A680)

Leverancier: Bioss

Omschrijving: NGL-1 is a single pass type I membrane protein that acts as a cell adhesion molecule. It contains nine leucine-rich repeats (LRR) and one Ig-like C2-type domain. NGL-1 is predominantly expressed in the striatum and the cerebral cortex of both the embryonic and adult brain. NGL-1 specifically interacts with Netrin G1 (a molecule involved in axon guidance in the developing central nervous system) via its LRR region. NGL-1 plays a role in the regulation of neurite outgrowth of developing thalamic neurons. Soluble NGL-1 inhibits thalamic axon outgrowth while NGL-1 that is bound to the surface of developing thalamocortical axons stimulates growth. NGL-1 also interacts with Whirlin possibly stablising interstereociliar links.

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