AMP deaminase 2

AMP deaminase 2 (AMPD2) is an enzyme that catalyzes the deamination of AMP to IMP, playing a critical role in energy metabolism and the purine nucleotide cycle (UniProt: Q01433). The protein is 825 amino acids in length and is expressed in humans.

AMPD2 is associated with two neurological disorders: pontocerebellar hypoplasia 9 (PCH9), characterized by severe psychomotor delay, progressive microcephaly, seizures, and brain atrophy; and spastic paraplegia 63 (SPG63), a neurodegenerative condition marked by progressive weakness and spasticity of the lower limbs (UniProt: Q01433). These associations indicate a role in neuronal function and maintenance.

In Alzheimer's Disease, AMPD2 is upregulated in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of 0.474 (Chaparral AD proteomics). This upregulation was detected across subcellular fractions in human brain using TMT-labeled proteomics, suggesting potential involvement in AD pathology, though the modest fold-change indicates a subtle dysregulation of energy metabolism in the diseased brain.