Bioss
Numéro de catalogue:
(BOSSBS-12335R-A680)
Fournisseur:
Bioss
Description:
The features of hemochromatosis include cirrhosis of the liver, diabetes, hypermelanotic pigmentation of the skin, and heart failure. Since hemochromatosis is a relatively easily treated disorder if diagnosed, this is a form of preventable cancer. The HFE protein, which is defective in hereditary hemo-chromatosis, normally is expressed in crypt enterocytes of the duodenum where it has a unique, predominantly intracellular localisation. In placenta, the HFE protein co-localizes with and forms a stable association with the transferrin receptor (TfR), providing a link between the HFE protein and iron transport. Immunocytochemistry shows that the HFE protein and TfR both are expressed in the crypt enterocytes. Western blots show that, as is the case in human placenta, the HFE protein in crypt enterocytes is physically associated with the TfR and with 2-microglobulin. It is proposed that HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron and that the balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. The gene which encodes HFE maps to human chromosome 6p21.3.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0121R-CY5)
Fournisseur:
Bioss
Description:
SYAP1 (synapse-associated protein 1) is a 352 amino acid protein that is ubiquitously expressed in adult tissues. SYAP1 contains one BSD domain which is a novel domain that is present in basal transcription factors, synapse-associated proteins and several hypothetical proteins. The BSD domain is characterized by three predicted alpha helices and by conserved tryptophan and phenylalanine residues, located at the C-terminus of the domain. The gene that encodes SYAP1 in humans is located on chromosome X. Chromosome X consists of about 153 million base pairs and nearly 1,000 genes. Color blindness, hemophilia, and Duchenne muscular dystrophy are well known X chromosome-linked conditions which affect males more frequently as males carry a single X chromosome.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3268R-CY7)
Fournisseur:
Bioss
Description:
Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9643R-A350)
Fournisseur:
Bioss
Description:
C17orf64 is a 562 amino acid protein that is encoded by a gene mapping to human chromosome 17. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, specifically it is recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are also associated with chromosome 17.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-6840R-CY5.5)
Fournisseur:
Bioss
Description:
May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A-PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival. As a member of the NUPR1/RELB/IER3 survival pathway, may provide pancreatic ductal adenocarcinoma with remarkable resistance to cell stress, such as starvation or gemcitabine treatment.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5193R-A647)
Fournisseur:
Bioss
Description:
AKT, also known as protein kinase B (PKB), is a 57 kDa serine/threonine protein kinase. There are three mammalian isoforms of Akt: AKT1 (PKB alpha), AKT2 (PKB beta) and AKT3 (PKB gamma) with AKT2 and AKT3 being approximately 82% identical with the AKT1 isoform. Each isoform has a pleckstrin homology (PH)domain, a kinase domain and a carboxy terminal regulatory domain. AKT was originally cloned from the retrovirus AKT8, and is a key regulator of many signal transduction pathways. Its tight control over cell proliferation and cell viability are manifold; overexpression or inappropriate activation of AKT has been seen in many types of cancer. AKT mediates many of the downstream events of phosphatidylinositol 3 kinase (a lipid kinase activated by growth factors, cytokines and insulin). PI3 kinase recruits AKT to the membrane, where it is activated by PDK1 phosphorylation. Once phosphorylated, AKT dissociates from the membrane and phosphorylates targets in the cytoplasm and the cell nucleus.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-11354R-HRP)
Fournisseur:
Bioss
Description:
Piccolo is 1 component of the presynaptic cytomatrix. Bassoon is a large protein which is also found in the presynaptic compartments of rat brain synapses. Bassoon, along with Piccolo, is part of the ensemble of presynaptic proteins that are involved in orchestrating events at the nerve terminal. Bassoon is found in axon terminals of hippocampal neurons where it is highly concentrated in the vicinity of the active zone. Piccolo has a similar distribution and colocalizes with Bassoon in cultured hippocampal cells. Piccolo zinc fingers interact with the dual prenylated rab3A and VAMP2/ Synaptobrevin II receptor PRA. Bassoon may be involved in cytomatrix organization at the site of neurotransmitter release. The gene which encodes bassoon maps to human chromosome 3p21.31. The gene which encodes piccolo maps to human chromosome 7q21.11.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-3719R-HRP)
Fournisseur:
Bioss
Description:
Probably involved in connections of major cytoskeletal structures to the plasma membrane. High molecular weight cytoskeletal protein concentrated at regions of cell-substratum contact and, in lymphocytes, at cell-cell contacts (By similarity).
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12282R-CY5)
Fournisseur:
Bioss
Description:
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12231R-A555)
Fournisseur:
Bioss
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF619 (Zinc finger protein 619) is a 560 amino acid nuclear protein that contains ten C2H2-type zinc fingers. The gene encoding ZNF619 maps to human chromosome 3, which is made up of about 214 million bases encoding over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. 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.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5293R-A680)
Fournisseur:
Bioss
Description:
Apoptosis, or programmed cell death, occurs during normal cellular differentiation and development of multicellular organisms. Apoptosis is induced by certain cytokines including TNF and Fas ligand of the TNF family through their death domain containing receptors, TNFR1 and Fas. Cell death signals are transduced by death domain (DD) containing adapter molecules and members of the ICE/CED3 protease family. A novel DD containing molecule was recently cloned from mouse, human and monkey and designated Daxx. Daxx is a death domain containing important intermediate in the Fas mediated apoptosis. Daxx binds specifically to the Fas death domain and enhances Fas induced apoptosis and activates the Jun N terminal kinase (JNK) pathway. It is widely expressed in foetal and adult human and mouse tissue, indicating its important function in Fas signaling pathways.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-5296R-A647)
Fournisseur:
Bioss
Description:
DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-12282R-A680)
Fournisseur:
Bioss
Description:
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-10382R-A350)
Fournisseur:
Bioss
Description:
Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013].
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-9203R-A555)
Fournisseur:
Bioss
Description:
CD300C , also known as CLM-6 (CMRF35-like molecule 6), is a 224 amino acid single-pass type I membrane protein that is present on the surface of neutrophils, monocytes and a select proportion of peripheral blood B and T lymphocytes. CD300C contains two potential N-gylcosylation sites, a potential O-glycosylated hinge-like region and an Ig-like V-type (immunoglobulin-like) domain that is very similar to the Fc receptor for polymeric IgA and IgM. The gene encoding CD300C is localized to a region on human chromosome 17 that harbors a susceptilibty locus for psoriasis, dermatitis and rheumatoid arthritis, suggesting a possible involvement of CD300C with these conditions.
UOM:
1 * 100 µl
Numéro de catalogue:
(BOSSBS-0015R-A750)
Fournisseur:
Bioss
Description:
The insulin-like growth factors possess growth-promoting activity. In vitro, they are potent mitogens for cultured cells. IGF-II is influenced by placental lactogen and may play a role in fetal development. Preptin undergoes glucose-mediated co-secretion with insulin, and acts as physiological amplifier of glucose-mediated insulin secretion. Exhibits osteogenic properties by increasing osteoblast mitogenic activity through phosphoactivation of MAPK1 and MAPK3.
UOM:
1 * 100 µl
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