AMP Deaminase 2 (AMPD2) Antibody

Background

AMPD2 is an isoform of AMP deaminase predominantly expressed in the liver and brain, where it catalyzes the conversion of AMP to IMP as part of the purine nucleotide cycle. AMPD2 plays an essential role in hepatic energy metabolism, facilitating nucleotide turnover and maintaining purine homeostasis during conditions of energy stress. In the liver, AMPD2 activity is tightly linked to gluconeogenesis and urea cycle regulation, as it supplies intermediates such as fumarate for energy generation and ammonia detoxification. Mutations in AMPD2 are associated with pontocerebellar hypoplasia type 9 (PCH9), a severe neurodevelopmental disorder characterized by brain atrophy, microcephaly, and motor impairments due to disrupted purine metabolism. AMPD2 dysfunction leads to impaired nucleotide cycling, energy imbalance, and neuronal loss, highlighting its importance in brain development and function. Its role in liver metabolism and neurological health underscores its potential as a target for metabolic and neurodegenerative disorders.