PRPS2, PRPS3 (PRPS1) Antibody – Rabbit Polyclonal

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]

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; Carbohydrate Metabolism - pentose phosphate pathway; EC 2.7.6.1; Kinase, other

Chromosomal Location of Human Ortholog: Xq22.3

Cellular Component: cytosol

Molecular Function: ribose phosphate diphosphokinase activity; protein homodimerization activity; magnesium ion binding; kinase activity; ATP binding

Biological Process: nervous system development; hypoxanthine biosynthetic process; carbohydrate metabolic process; 5-phosphoribose 1-diphosphate biosynthetic process; ribonucleoside monophosphate biosynthetic process; pathogenesis; purine nucleotide biosynthetic process; phosphorylation; purine base metabolic process; pyrimidine nucleotide biosynthetic process

Disease: Charcot-marie-tooth Disease, X-linked Recessive, 5; Arts Syndrome; Phosphoribosylpyrophosphate Synthetase Superactivity