Phosphoribokinase

Phosphoribokinase is an enzyme that plays a crucial role in the metabolism of nucleotides. It is involved in the purine metabolism pathway, specifically in the conversion of adenosine monophosphate (AMP) to adenosine diphosphate (ADP). This enzyme is encoded by the PRPS1 gene in humans.

Function

Phosphoribokinase catalyzes the transfer of a phosphate group from adenosine triphosphate (ATP) to AMP, producing ADP. This reaction is a key step in the purine metabolism pathway, which is responsible for the synthesis and degradation of purines. Purines are essential components of DNA, RNA, and ATP, as well as several other important biomolecules.

Structure

The structure of phosphoribokinase is highly conserved among different species, indicating its importance in cellular function. The enzyme is a monomer with a molecular weight of approximately 39 kDa. It contains a large active site that binds to ATP and AMP, facilitating the transfer of the phosphate group.

Clinical significance

Mutations in the PRPS1 gene, which encodes phosphoribokinase, can lead to several genetic disorders. These include Arts syndrome, Charcot-Marie-Tooth disease, and gout. These conditions are characterized by a range of symptoms, including neurological abnormalities, hearing loss, and painful inflammation of the joints.

See also

• Purine metabolism
• Nucleotide metabolism
• Enzyme kinetics

References

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