Mouse phosphoribosyl pyrophosphate synthetase 1 ELISA Kit | PRPS1 elisa kit
Mouse Ribose-phosphate pyrophosphokinase 1, PRPS1 ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
PRPS1: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5); also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in PRPS1 are the cause of ARTS syndrome (ARTS); also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1); also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. Belongs to the ribose-phosphate pyrophosphokinase family.
Protein type: EC 2.7.6.1; Carbohydrate Metabolism - pentose phosphate pathway; Nucleotide Metabolism - purine; Kinase, other
Cellular Component: protein complex
Molecular Function: ribose phosphate diphosphokinase activity; transferase activity; protein homodimerization activity; GDP binding; metal ion binding; nucleotide binding; magnesium ion binding; kinase activity; carbohydrate binding; ADP binding; ATP binding; AMP binding
Biological Process: AMP biosynthetic process; cellular biosynthetic process; nervous system development; ribose phosphate metabolic process; nucleotide biosynthetic process; hypoxanthine biosynthetic process; ribonucleoside monophosphate biosynthetic process; 5-phosphoribose 1-diphosphate biosynthetic process; purine nucleotide biosynthetic process; phosphorylation; purine base metabolic process
Research Articles on PRPS1
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Product Notes
The Mouse PRPS1 prps1 (Catalog #AAA9325225) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9325225 ELISA Kit recognizes Mouse PRPS1. It is sometimes possible for the material contained within the vial of "phosphoribosyl pyrophosphate synthetase 1, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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