AMPD2
Description
The AMPD2 (adenosine monophosphate deaminase 2) is a protein-coding gene located on chromosome 1.
AMP deaminase 2 is an enzyme encoded by the AMPD2 gene in humans. High levels of AMPD2 expression in undifferentiated pleomorphic sarcoma (UPS) are associated with poor patient outcomes and a proliferative tumor phenotype.
AMP deaminase plays a crucial role in energy metabolism by catalyzing the deamination of AMP to IMP, a key step in the purine nucleotide cycle.
AMPD2 is also known as AMPD, PCH9, SPG63.
Associated Diseases
- Autosomal recessive spastic paraplegia type 63
- Spastic paraplegia 63, autosomal recessive
- Pontocerebellar hypoplasia, type 9
