AMP deaminase 2

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.

Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.

Highly expressed in cerebellum.

AMP deaminase 2, AMP deaminase isoform L, AMPD2

• entrezGene:271
• omim:102771
• swissprot:Q01433

Proteins

Epigenetics

100688Da