AMPD2

Adenosine monophosphate deaminase-2 (EC 3.5.4.6) catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.[supplied by OMIM

Full Name

adenosine monophosphate deaminase 2 (isoform L)

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.

Biological Process

AMP metabolic process Source: GO_Central
Cyclic purine nucleotide metabolic process Source: UniProtKB
Energy homeostasis Source: MGI
IMP biosynthetic process Source: MGI
IMP salvage Source: UniProtKB-UniPathway
Purine-containing compound salvage Source: Reactome

Cellular Location

Cytosol

Involvement in disease

Pontocerebellar hypoplasia 9 (PCH9): 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 recessive (SPG63): 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.

PTM

Methylated at Gln-6 by N6AMT1.