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Catalog Number: (10335-632)
Supplier: Bioss
Description: S6PDH


Catalog Number: (10293-610)
Supplier: Bioss
Description: The Component of the Cleavage and Polyadenylation Specificity Factor (CPSF) complex plays an important role in the 3'-end formation of pre-mRNA. This complex recognizes the AAUAAA signal sequence and interacts with poly(A) polymerase to process and add to the poly(A) tail. FIP1L1 (FIP1-like 1), also known as Pre-mRNA 3'-end-processing factor FIP1, FIP1 (Factor interacting with PAP) and RHE (Rearranged in hypereosinophilia), is a 594 amino acid nuclear protein that is a component of the CPSF complex. Within the complex, FIP1L1 contributes to the poly(A) recognition and stimulates poly(A) addition. Fusion of the genes encoding FIP1L1 and PDGFRA due to an interstitial deletion on chromosome 4q12 is the cause of hypereosinophilia syndrome, a rare blood disorder characterized by continuous overproduction of eosinophils in the bone marrow that leads to tissue infiltration and organ damage. There are three isoforms of FIP1L1 that are produced as a result of alternative splicing events.


Catalog Number: (10409-874)
Supplier: Bioss
Description: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)-pregnene-3,2-dione, precursors to testosterone and progesterone, respectively.


Catalog Number: (10409-890)
Supplier: Bioss
Description: DNA repair enzyme that can remove a variety of covalent adducts from DNA through hydrolysis of a 5'-phosphodiester bond, giving rise to DNA with a free 5' phosphate. Catalyzes the hydrolysis of dead-end complexes between DNA and the topoisomerase 2 (TOP2) active site tyrosine residue. Hydrolyzes 5'-phosphoglycolates on protruding 5' ends on DNA double-strand breaks (DSBs) due to DNA damage by radiation and free radicals. The 5'-tyrosyl DNA phosphodiesterase activity can enable the repair of TOP2-induced DSBs without the need for nuclease activity, creating a 'clean' DSB with 5'-phosphate termini that are ready for ligation. Has also 3'-tyrosyl DNA phosphodiesterase activity, but less efficiently and much slower than TDP1. May also act as a negative regulator of ETS1 and may inhibit nuclear factor-kappa-B activation.


Catalog Number: (10409-924)
Supplier: Bioss
Description: The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene.


Catalog Number: (10409-916)
Supplier: Bioss
Description: The protein encoded by this gene is a member of the Fe65 protein family. It is an adaptor protein localized in the nucleus. It interacts with the Alzheimer's disease amyloid precursor protein (APP), transcription factor CP2/LSF/LBP1 and the low-density lipoprotein receptor-related protein. APP functions as a cytosolic anchoring site that can prevent the gene product's nuclear translocation. This encoded protein could play an important role in the pathogenesis of Alzheimer's disease. It is thought to regulate transcription. Also it is observed to block cell cycle progression by downregulating thymidylate synthase expression. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene.


Catalog Number: (10409-842)
Supplier: Bioss
Description: Myosin is a highly conserved, ubiquitously expressed protein that interacts with Actin to generate the force for cellular movements. Conventional Myosins are hexameric proteins consisting of two heavy chain subunits, a pair of non-phosphorylatable light chain subunits and a pair of phosphorylatable light chain subunits. Three general classes of Myosin have been cloned: smooth muscle Myosins, striated muscle Myosins and non-muscle Myosins . Contractile activity in smooth muscle is regulated by the calcium/calmodulin-dependent phosphorylation of Myosin light chain (MLC) by Myosin light chain kinase. Myosin heavy chains, which are encoded by the MYH gene family, contain Actin-activated ATPase activity which generates the motor function of Myosin. Myosin heavy chains were initially isolated from a human fetal skeletal muscle and are the major determinant in the speed of contraction of skeletal muscle. Various isoforms of myosin heavy chains are differentially expressed depending on the functional activity of the muscle.


Catalog Number: (10388-060)
Supplier: Bioss
Description: Serves as a reserve supply of oxygen and facilitates the movement of oxygen within muscles.


Catalog Number: (10388-130)
Supplier: Bioss
Description: Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.


Catalog Number: (10388-124)
Supplier: Bioss
Description: Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.


Catalog Number: (10388-104)
Supplier: Bioss
Description: Phospholipase A2 activator protein (PLAP), activates PLA2 (phospholipase A2 enzyme) and is an important mediator of eicosanoid generation. Also known as a pro-inflammatory agent, PLAP has been found in inflamed tissues and synovial fluid from patients with rheumatoid arthritis. As such, it is believed to play an important role in the regulation of inflammatory diseases. The formation of PLAP can be stimulated by IL-1 beta and TNF-alpha.


Catalog Number: (10288-386)
Supplier: Bioss
Description: The cytochrome P450 proteins (CYPs) are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. P450 enzymes are classified into subfamilies based on their sequence similarities. CYP26A1 is a major retinoic acid catabolic enzyme. CYP26A1 plays an important role in protecting tailbud tissues from inappropriate exposure to retinoic acid. CYP26A1 transcription is epigenetically regulated by nuclear retinoic acid receptor ∫2. Mutations in the gene encoding for CYP26A1 are associated with caudal agenesis and spina bifida, imperforate anus, agenesis of the caudal portions of the digestive and urogenital tracts, and malformed lumbosacral skeletal elements. CYP26A1 is upregulated in adenomatous polyposis coli mouse adenomas, human FAP adenomas, human sporadic colon carcinomas, and in the intestine of adenomatous polyposis coli (apcmcr) mutant zebrafish embryos.


Catalog Number: (10254-274)
Supplier: Bioss
Description: SNAP 29 is a 258 amino acid protein that localizes to the membrane and the cytoplasm, as well as to the cell junction, and contains one t-SNARE coiled-coil homology domain. Expressed in liver, heart, brain, kidney, placenta, lung, spleen, pancreas and skeletal muscle, SNAP 29 binds tightly to Syntaxins and, via this binding, is involved in membrane trafficking events. Defects in the gene encoding SNAP 29 are the cause of CEDNIK syndrome, a neurocutaneous syndrome that is associated with cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. The gene encoding SNAP 29 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.


Catalog Number: (10254-284)
Supplier: Bioss
Description: The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012].


Catalog Number: (10254-262)
Supplier: Bioss
Description: SNAP 29 is a 258 amino acid protein that localizes to the membrane and the cytoplasm, as well as to the cell junction, and contains one t-SNARE coiled-coil homology domain. Expressed in liver, heart, brain, kidney, placenta, lung, spleen, pancreas and skeletal muscle, SNAP 29 binds tightly to Syntaxins and, via this binding, is involved in membrane trafficking events. Defects in the gene encoding SNAP 29 are the cause of CEDNIK syndrome, a neurocutaneous syndrome that is associated with cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. The gene encoding SNAP 29 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.


Catalog Number: (10254-282)
Supplier: Bioss
Description: SNAP 29 is a 258 amino acid protein that localizes to the membrane and the cytoplasm, as well as to the cell junction, and contains one t-SNARE coiled-coil homology domain. Expressed in liver, heart, brain, kidney, placenta, lung, spleen, pancreas and skeletal muscle, SNAP 29 binds tightly to Syntaxins and, via this binding, is involved in membrane trafficking events. Defects in the gene encoding SNAP 29 are the cause of CEDNIK syndrome, a neurocutaneous syndrome that is associated with cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. The gene encoding SNAP 29 maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.


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