Phosphoribosylamine—glycine Ligase

Phosphoribosylamine—glycine ligase (also known as GARS or GART) is an enzyme that plays a crucial role in the purine biosynthesis pathway. This enzyme is encoded by the GART gene in humans.

Function

Phosphoribosylamine—glycine ligase catalyzes the ATP-dependent addition of glycine to phosphoribosylamine (PRA), producing glycinamide ribonucleotide (GAR) and inorganic phosphate. This is the second step in the de novo synthesis of purine nucleotides, which are essential components of DNA and RNA, and also serve as energy carriers and signaling molecules in the cell.

Structure

The GART gene is located on the long (q) arm of chromosome 21 at position 22.2. The encoded enzyme is a monomer with a molecular weight of approximately 100 kDa. It contains two domains: an N-terminal PRA-Gly ligase domain and a C-terminal formyltransferase domain.

Clinical significance

Mutations in the GART gene have been associated with Lesch-Nyhan syndrome, a rare genetic disorder characterized by overproduction of uric acid, neurological disabilities, and self-mutilating behaviors. In addition, the GART gene is located in the Down syndrome critical region of chromosome 21, and overexpression of this gene may contribute to some of the phenotypic features of Down syndrome.

See also

• Purine metabolism
• Lesch-Nyhan syndrome
• Down syndrome

References

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