4-(p-Tolyl)butyric+acid
Catalog Number:
(10350-916)
Supplier:
Bioss
Description:
This protein tyrosine kinase transmembrane receptor is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a member of the CSF1/PDGF receptor family of tyrosine protein kinases and contains 5 immunoglobulin like C2 type domains. CD115 is expressed by cells of the monocytic lineage and by progenitor cells. Mutations in this gene have been associated with a predisposition to myeloid malignancy.
Catalog Number:
(10241-734)
Supplier:
Bioss
Description:
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]
Catalog Number:
(10467-028)
Supplier:
Bioss
Description:
This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti PORIMIN (pro oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death.
Catalog Number:
(10474-932)
Supplier:
Bioss
Description:
CLN6, a 311 amino acid protein, has seven predicted transmembrane domains and is conserved across vertebrates. The CLN6 protein localizes to the endoplasmic reticulum but contributes to lysosomal function. Mutations in the CLN6 gene cause variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL), a lysosomal storage disorder marked by progressive mental deterioration and blindness; part of a group of severe inherited neurodegenerative disorders affecting children wherein lysosomes accumulate storage material, causing the death of neurons. CLN6 is one of eight proteins, including CLN1-8, that are associated with NCL.
Catalog Number:
(10280-494)
Supplier:
Bioss
Description:
APPBP1 is a member of the ubiquitin-activating E1 family. In fetal tissues APPBP1 is widely expressed and in adult tissues it is expressed throughout the brain. APPBP1 is a cell membrane associated protein and functions as the regulatory subunit in a heterodimer with UBA3. The APPBP1/UBA3 complex binds to and activates NEDD8, a ubiquitin-like protein involved in signal transduction, cell proliferation and development. This suggests that APPBP1 affects a variety of cellular functions. In addition, APPBP1 is essential for cell cycle progression through the S/M checkpoint. More specifically, it inhibits the entry into S phase and promotes entry into M phase.
Catalog Number:
(10405-024)
Supplier:
Bioss
Description:
By generating PPi, plays a role in regulating pyrophosphate levels, and functions in bone mineralization and soft tissue calcification. PPi inhibits mineralization by binding to nascent hydroxyapatite (HA) crystals, thereby preventing further growth of these crystals. Preferentially hydrolyzes ATP, but can also hydrolyze other nucleoside 5' triphosphates such as GTP, CTP, TTP and UTP to their corresponding monophosphates with release of pyrophosphate and diadenosine polyphosphates, and also 3',5'-cAMP to AMP. May also be involved in the regulation of the availability of nucleotide sugars in the endoplasmic reticulum and Golgi, and the regulation of purinergic signaling. Appears to modulate insulin sensitivity and function.
Catalog Number:
(10310-144)
Supplier:
Bioss
Description:
C20orf202 is a 122 amino acid protein that is pending further characterization. The gene encoding C20orf202 maps to human chromosome 20. Comprising approximately 2% of the human genome, chromosome 20 contains nearly 63 million bases that encode over 600 genes, some of which are associated with Creutzfeldt-Jakob disease, amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome. Additionally, chromosome 20 contains a region with numerous genes which are thought to be important for seminal production and may be potential targets for male contraception.
Catalog Number:
(10304-908)
Supplier:
Bioss
Description:
Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane. Acts at the same site as, but independently of, PECAM1 (By similarity). Homophilic adhesion molecule, but these interactions may not be required for cell aggregation (By similarity).
Catalog Number:
(10280-894)
Supplier:
Bioss
Description:
This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010].
Catalog Number:
(10264-608)
Supplier:
Bioss
Description:
IL-1R9 is a member of the interleukin-1/Toll-like receptor family expressed in fetal brain. It is a single pass transmembrane protein with a highly conserved cytoplasmic region that is slightly longer than that of other family members. IL-1R9 is highly homologous to IL-1R8 and the IL-1 accessory protein receptor chains. The genes encoding IL-1R9 and IL-1R8 are both found on the X-chromosome in the region associated with X-linked non-syndromic mental retardation. Unlike other family members, IL-1R9 and IL-1R8 do not activate NF-kB.
Catalog Number:
(10353-684)
Supplier:
Bioss
Description:
Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Binds bacterial lipopolysaccharide (LPS) et mediates LPS-induced inflammatory response, including TNF secretion by monocytes.
Catalog Number:
(10324-844)
Supplier:
Bioss
Description:
Involved in renal tubulogenesis. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. Acts as a regulator of cilium length, together with PKD2. The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). May be an ion-channel regulator. Involved in adhesive protein-protein and protein-carbohydrate interactions.
Catalog Number:
(10397-638)
Supplier:
Bioss
Description:
Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.
Catalog Number:
(10421-238)
Supplier:
Bioss
Description:
Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation.
Catalog Number:
(10249-362)
Supplier:
Bioss
Description:
This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008].
Catalog Number:
(10278-866)
Supplier:
Bioss
Description:
TRB-1 is a 372 amino acid protein that contains one protein kinase domain and belongs to the Ser/Thr protein kinase superfamily. Expressed ubiquitously with highest expression in bone marrow, thyroid gland, skeletal muscle and pancreas, TRB-1 interacts with MAPK kinases and is thought to regulate the activation of MAP kinses, possibly controlling MAP kinase cascades. The gene encoding TRB-1 maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies.
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