PRPS1 : phosphoribosyl pyrophosphate synthetase 1

Description

The PRPS1 (phosphoribosyl pyrophosphate synthetase 1) is a protein-coding gene located on chromosome X.

The PRPS1 gene provides instructions for producing the enzyme phosphoribosyl pyrophosphate synthetase 1 (PRPP synthetase 1). This enzyme plays a critical role in the production of phosphoribosyl pyrophosphate (PRPP), a molecule essential for the synthesis of purine and pyrimidine nucleotides. These nucleotides serve as building blocks for DNA, RNA, and energy sources like ATP and GTP within the cell. Purines and pyrimidines can be created from smaller molecules or recycled from the breakdown of DNA and RNA through a process known as the salvage pathway. Recycling these molecules is more efficient than creating new ones, as it requires less energy and time. The salvage pathway ensures that cells have an adequate supply of purines and pyrimidines. PRPP synthetase 1 and PRPP are crucial for both the synthesis of new purines and pyrimidines and the purine salvage pathway.

PRPS1 is also known as ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI.

Associated Diseases

• Lethal ataxia with deafness and optic atrophy
• Arts syndrome
• Severe phosphoribosylpyrophosphate synthetase superactivity
• Mild phosphoribosylpyrophosphate synthetase superactivity
• Deafness, X-linked 1
• Charcot-Marie-Tooth disease, X-linked recessive, 5
• X-linked Charcot-Marie-Tooth disease type 5
• X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
• Phosphoribosylpyrophosphate synthetase superactivity
• Charcot-Marie-Tooth disease
• Nonsyndromic hearing loss