"Bioss"

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The Flavin containing monooxygenase family consists of five gene products, FMO1-5, that are major enzymatic oxidants involved in the metabolism of various therapeutics. Located in the liver, FMO3 is a hepatic microsomal enzyme that oxygenates soft nucleophiles such as secondary and tertiary amines. Through its N-oxygenase capabilities, FMO3 acts on a variety of xenobiotics to catalyze oxidative digestion. Defects in the FMO3 gene are the primary cause of trimethylaminuria (TMAuria), an inborn error of metabolism associated with a fishy body odor emitting from sweat, urine and breath. Genetic mutations in FMO3 lead to the N-oxidation of amino-trimethylamine derived from food products, thus producing the malodor associated with TMAuria.

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Anti-IDH2 Rabbit Polyclonal Antibody

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The Trk family of nerve growth factor receptors includes Trk A(also referfed to as Trk A gp140),Trk B and Trk C. The prototype member of this gene family, Trk A, encodes a 140 kDa cell surface receptor , gp140, the expression of which is restricted in vivo to neurons of the sensory spinal and cranial gangliaof neurocrest origin. Nerve growth factor (NGF) stimulates tyrosine phosphorylation of Trk gp 140 in neural cell lines and in embryonic dorsal root ganglia. By comparison, BDNF and to a lesser extent, NT-3, but not NGF, can induce tyrosine phophorylayion of Trk B gp 145. The third member of the Trk receptor family, Trk C incodes a 140 kDa protein, Trk C gp140, that is preferentially expressed in brain tissue and primarily functions as a receptor for NT-3.An additional component of the Trk receptor complex, NGFR p175, binds to neurotrophic factors with low affinity but is required for efficient signaling. NGFR p175 accelerates Trk activation and may recruit downstream dffector molecules to the ligand-bound receptor complex.

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The PCDHA12 gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five, which demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins which may play a role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined.

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May regulate transport of alpha4-beta2 neuronal acetylcholine receptor.

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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.

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E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation. LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways. Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation. LUBAC is proposed to be recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex. Together with FAM105B/otulin, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis. Binds polyubiquitin of different linkage types.

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Anti-NPPB Rabbit Polyclonal Antibody

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Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity).

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EDD is a progestin-regulated gene that was isolated from T-47D human breast cancer cells. Based on sequence homology, EDD appears to be a human homolog of the Drosophila hyperplastic discs (hyd) gene, a tumor suppressor gene that is required for control of imaginal disc growth. EDD contains a HECT domain in the carboxy terminus. HECT domain-containing proteins function as ubiquitin-protein ligases, or E3 enzymes. EDD has been shown to bind to ubiquitin, and like other HECT family proteins, may function as an E3 ubiquitin-protein ligase.

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Integrins are heterodimeric cell surface receptors composed of alpha and beta subunits, which mediate cell-cell and cell-extracellular matrix attachments. Aberrant integrin expression has been found in many epithelial tumours. Changes in integrin expression have been shown to be important for the growth and early metastatic capacity of melanoma cells. Integrin alpha-v beta-6 is upregulated in cancers and during tissue remodelling but is absent from resting adult tissues. Integrin alpha-v beta-6 promotes invasion and correlates with poor survival and therefore makes a promising therapeutic target.

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Cathelicidins are a family of antimicrobial proteins found in the peroxidase-negative granules of neutrophils. Along with the family of proteins known as defensins, cathelicidins participate in the first line of defense by preventing local infection and systemic invasion of microbes. FALL-39 precursor (FALL-39 peptide antibiotic, cationic anti-microbial protein, CAMP, CAP-18, HSD26) is a cathelicidin anti-microbial protein that contains the antibacterial peptide LL-37 (amino acids 134-170). In contrast to the defensins, which are cysteine-rich peptides that fold in ∫-pleated sheets, LL-37 is a cysteine-free peptide that can adopt an amphipathic å-helical conformation. LL-37 binds to bacterial lipopolysaccharides (LPS) and is a potent chemotactic factor for recruiting mast cells to sites of inflammation. LL-37 is present in inflammatory skin diseases that include psoriasis, sub-acute lupus erthematosus, dermatitis and nickel contact hypersensitivity. It is not found in normal skin epidermis. The secreted protein is expressed primarily in bone marrow, testis and neutrophils. The mouse and rat ortholog, CRAMP (cathelin-related antimicrobial peptide), is also part of the cathelicidin family of host defense peptides. These include precursors of potent antimicrobial peptides that direct antimicrobial activity against various microbial pathogens and also activate mesenchymal cells during wound repair. CRAMP is expressed in testis, spleen, stomach and intestine.

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A chromosomal aberration involving MLLT10 is associated with acute leukemias. Translocation t(10;11)(p12;q23) with MLL/HRX. The result is a rogue activator protein.A chromosomal aberration involving MLLT10 is associated with diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with PICALM.

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Belonging to the F-box family of proteins, FBXO35 (F-box only protein 35), also designated F-box and WD-40 domain-containing protein 12 (FBXW12 or FBXO12), is a 464 amino acid protein that contains one C-terminal F-box domain. F-box proteins are critical components of the SCF (Skp1-CUL-1-F-box protein)-type E3 ubiquitin ligase complex and are involved in substrate recognition and recruitment for ubiquitination. They are members of a larger family of proteins that are involved in the regulation of a wide variety of cellular mechanisms, including the cell cycle, the immune response, signaling cascades and developmental processes. They function by targeting proteins, such as cyclins, cyclin-dependent kinase inhibitors, I˚B-å and ∫-catenin, for degradation by the proteasome after ubiquitination. Via its F-box domain, FBXO35 can directly interact with Skp1 p19 and CUL-1. FBXO35 is ubiquitously expressed at low levels in most human tissues.

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Membrane receptor signaling by various ligands, including interferons and growth hormones such as EGF, induces activation of JAK kinases which then leads to tyrosine phosphorylation of the various Stat transcription factors. Stat1 and Stat2 are induced by IFN-å and form a heterodimer which is part of the ISGF3 transcription factor complex. Although early reports indicate Stat3 activation by EGF and IL-6, it has been shown that Stat3∫ appears to be activated by both while Stat3å is activated by EGF, but not by IL-6. Highest expression of Stat4 is seen in testis and myeloid cells. IL-12 has been identified as an activator of Stat4. Stat5 has been shown to be activated by Prolactin and by IL-3. Stat6 is involved in IL-4 activated signaling pathways.

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Distributive alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Some of the substrates may be primed by METTL11B-mediated monomethylation. Responsible for the N-terminal methylation of KLHL31, MYL2, MYL3, RB1, RCC1, RPL23A and SET. Required during mitosis for normal bipolar spindle formation and chromosome segregation via its action on RCC1.