NP_002755.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
27,526 Da
NCBI Official Full Name
ribose-phosphate pyrophosphokinase 1 isoform 1
NCBI Official Synonym Full Names
phosphoribosyl pyrophosphate synthetase 1
NCBI Official Synonym Symbols
ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP [Similar Products]
NCBI Protein Information
ribose-phosphate pyrophosphokinase 1
UniProt Protein Name
Ribose-phosphate pyrophosphokinase 1
UniProt Synonym Protein Names
PPRibP; Phosphoribosyl pyrophosphate synthase I; PRS-I
UniProt Synonym Gene Names
UniProt Entry Name
PRPS1_HUMAN
NCBI Summary for PRPS1
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
UniProt Comments for PRPS1
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: Nucleotide Metabolism - purine; EC 2.7.6.1; Carbohydrate Metabolism - pentose phosphate pathway; Kinase, other
Chromosomal Location of Human Ortholog: Xq22.3
Cellular Component: cytosol
Molecular Function: ADP binding; AMP binding; ATP binding; carbohydrate binding; GDP binding; kinase activity; magnesium ion binding; protein binding; protein homodimerization activity; ribose phosphate diphosphokinase activity
Biological Process: 5-phosphoribose 1-diphosphate biosynthetic process; AMP biosynthetic process; carbohydrate metabolic process; hypoxanthine biosynthetic process; nervous system development; organ regeneration; phosphorylation; purine base metabolic process; purine nucleotide biosynthetic process; pyrimidine nucleotide biosynthetic process
Disease: Arts Syndrome; Charcot-marie-tooth Disease, X-linked Recessive, 5; Phosphoribosylpyrophosphate Synthetase Superactivity
Research Articles on PRPS1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with PRPS1 elisa kit
Pathways associated with PRPS1 elisa kit
Diseases associated with PRPS1 elisa kit
Organs/Tissues associated with PRPS1 elisa kit
|