protein
AMP deaminase 2
Gene
AMPD2
Organism
Homo sapiens(9606)
Length
825 aa
Mass
94,890 Da
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.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↑ Up in ADP3
not detected
P2
not detected
S2
not detected
S3
+0.474
Mean log₂FC across detected fractions: +0.474 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle
Disease associations
Pontocerebellar hypoplasia 9PCH9
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.
Spastic paraplegia 63, autosomal recessiveSPG63
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Sources
Last updated 5/8/2026, 6:33:57 AM