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Ace+Method+Development+Kits


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Supplier:  Bioss
Description:   Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The C12orf53 gene product has been provisionally designated C12orf53 pending further characterization.
Supplier:  Bioss
Description:   The specific function of CCDC54 (coiled-coil domain containing 54) is not yet known. The CCDC54 gene appears to be conserved in chimpanzee, dog, mouse, and rat.CCDC54, also known as coiled-coil domain-containing protein 54 or testis development protein NYD-SP17, is a 328 amino acid protein that is phosphorylated on threonine 182 during post-translational modification. The gene encoding NYD-SP17 maps to human chromosome 3q13.12 and mouse chromosome 16 B5. Human chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the 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.
Supplier:  Bioss
Description:   This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), LK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011].
Supplier:  Bioss
Description:   Encoding over 1100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction. Trisomy 12p leads to facial development defects, seizure disorders and a host of other symptoms varying in severity depending on the extent of mosaicism and is most severe in cases of complete trisomy. The LOC387856 gene product has been provisionally designated LOC387856 pending further characterization.
Catalog Number: (10750-424)

Supplier:  Prosci
Description:   PDCD5 Antibody: Programmed cell death 5 (PDCD5), a human apoptosis-related protein, is thought to play an early and universal role in apoptosis. PDCD5 is widely expressed and is upregulated in cells undergoing apoptosis, where it translocates rapidly from the cytoplasm to the nucleus. PDCD5 has a compact core structure of low flexibility with two mobile alpha-helices at N-terminal and a flexible unstructured C-terminal region. The charged residues are crucial for the ability of apoptosis-promoting and cell translocation of the protein. PDCD5 can facilitate apoptosis and enhance TAJ/TROY-induced paraptosis-like cell death. PDCD5 may play a dual role in the Tip60 pathway. It interacts with Tip60 and functions as a Tip60 co-activator to promote apoptosis. The nucleotide polymorphisms in the 5'-upstream region of PDCD5 affect promoter activity and the susceptibility of a Chinese population to develop chronic myelogenous leukemia and may represent a novel tumor suppressor gene influencing lung cancer.

Supplier:  Bioss
Description:   The specific function of CCDC54 (coiled-coil domain containing 54) is not yet known. The CCDC54 gene appears to be conserved in chimpanzee, dog, mouse, and rat.CCDC54, also known as coiled-coil domain-containing protein 54 or testis development protein NYD-SP17, is a 328 amino acid protein that is phosphorylated on threonine 182 during post-translational modification. The gene encoding NYD-SP17 maps to human chromosome 3q13.12 and mouse chromosome 16 B5. Human chromosome 3 houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the 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.

Supplier:  Bioss
Description:   Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.Involvement in disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) . DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.Defects in TBX1 are a cause of DiGeorge syndrome (DGS) .Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) .Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Catalog Number: (10352-088)

Supplier:  Bioss
Description:   Brutons tyrosine kinase (BTK) is a member of the BTK/Tec family of cytoplasmic tyrosine kinases. Like other BTK family members, it contains a pleckstrin homology (PH) domain, Src homology SH3 and SH2 domains. BTK plays an important role in B cell development. Activation of B cells by various ligands is accompanied by BTK membrane translocation mediated by its PH domain binding to phosphatidylinositol-3,4,5-trisphosphate. The membrane located BTK is active and associated with transient phosphorylation of two tyrosine residues, Tyr551 and Tyr223. Tyr551 in the activation loop is transphosphorylated by the Src family tyrosine kinase, leading to autophosphorylation at Tyr223 within the SH3 domain, which is necessary for full activation. The activation of BTK is negatively regulated by PKC beta through phosphorylation of BTK at Ser180, which results in reduced membrane recruitment, transphosphorylation and subsequent activation. The PKC/BTK inhibitory signal is likely to be a key determinant of the B cell receptor signaling threshold to maintain optimal BTK activity.
Supplier:  Bioss
Description:   Transcription factor 25 acts as a transcriptional repressor. It has been shown to repress transcription of SRF in vitro and hence may play a role in heart development. Transcription factor 25, is a 676 amino acid protein that plays a role in cell death. A member of the TCF25 family, Nulp1 utilizes its C-terminus to mediate transcriptional repression of SRF in vitro, and interacts with XIAP. Nulp1 localizes primarily to the nucleus but is also found in cytosol. Widely expressed, Nulp1 is found at high levels in embryonic brain and adult heart. The gene encoding Nulp1 maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
Supplier:  Thermo Scientific Chemicals
Description:   3,5-Dibromophenylboronic acid 97%
Supplier:  PRO-LAB DIAGNOSTICS INC CA
Description:   When strict calibration is required, certified/calibrated loops from Pro-Lab Diagnostics are manufactured from the highest quality 80/20 nickel chromium wire.
Catalog Number: (10104-178)

Supplier:  Prosci
Description:   HSPE1 is a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner.
Catalog Number: (10102-692)

Supplier:  Prosci
Description:   Members of the makorin family, including MKRN2, have a characteristic zinc finger composition that suggests that they are ribonucleoproteins.Members of the makorin family, including MKRN2, have a characteristic zinc finger composition that suggests that they are ribonucleoproteins (Gray et al., 2001 [PubMed 11597136]).
Catalog Number: (10111-214)

Supplier:  Prosci
Description:   HEME oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed.
Supplier:  Biotium
Description:   This antibody reacts with tissue non-specific alkaline phosphatase. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. The exact physiological function of the alkaline phosphatases is not known. A proposed function of this form of the enzyme is matrix mineralization; however, mice that lack a functional form of this enzyme show normal skeletal development. This enzyme has been linked directly to hypo-phosphatasia, a disorder that is characterized by hypercalcemia and includes skeletal defects. The character of this disorder can vary, however, depending on the specific mutation since this determines age of onset and severity of symptoms. Alternatively spliced transcript variants, which encode the same protein, have been identified for this gene.

Supplier:  Bioss
Description:   Cytokeratin 10 is a heterotetramer of two type I and two type II keratins. Cytokeratin 10 is generally associated with keratin 1. It is seen in all suprabasal cell layers including stratum corneum. A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560). Defects in cytokeratin 10 are a cause of epidermolytic hyperkeratosis (EHK), also known as bullous congenital ichthyosiform erythroderma (BCIE) or bullous erythroderma ichthyosiformis congenita of Brocq. EHK is an hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. At birth, affected individuals usually present with redness, blisters and superficial erosions due to cytolysis. Within a few weeks, the erythroderma and blister formation diminish and hyperkeratoses develop. Transmission is autosomal dominant, but most cases are sporadic. Defects in cytokeratin 10 are also a cause of annular epidermolytic ichthyosis (AEI), also known as cyclic ichthyosis with epidermolytic hyperkeratosis. AEI resembles clinical and histologic features of both epidermolytic hyperkeratosis and ichthyosis bullosa of Siemens.
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