PRPS1

Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Phosphoribosyl pyrophosphate synthetase I deficiency is a rare condition caused by mutations in PRPS1 that lead to variable disease phenotypes including optic atrophy, retinitis pigmentosa, ataxia, peripheral neuropathy and hearing loss.

Phosphoribosylpyrophosphate synthetase superactivity

PRPS1 superactivity

Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.

None

The disease is caused by variants affecting the gene represented in this entry.

Charcot-Marie-Tooth disease, X-linked recessive, 5

CMTX5

A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. 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.

None

The disease is caused by variants affecting the gene represented in this entry.

ARTS syndrome

ARTS

A disorder characterized by intellectual disability, 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Deafness, X-linked, 1

DFNX1

A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.

None

The disease is caused by variants affecting the gene represented in this entry.

A mutation in PRPS1 has been found in a patient with a phenotype that bridges that of PRSPS1 superactivity and ARTS syndrome with uric acid overproduction without gout but with recurrent infections, sensorineural hearing loss and motor neuropathy. The intermediate phenotype may be because Leu-142 variant affects both allosteric sites that are involved in inhibition of PRPS1 and the ATP-binding site, which suggests that this substitution can result both in a gain-of-function and loss-of-function of PRPP synthetase.

Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1.

Belongs to the ribose-phosphate pyrophosphokinase family.

Ribose-phosphate pyrophosphokinase 1, PPRibP, Phosphoribosyl pyrophosphate synthase I, PRS-I, PRPS1

• entrezGene:5631
• omim:311850
• swissprot:P60891

Proteins

34834Da