AMPD2 gene

adenosine monophosphate deaminase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Pontocerebellar hypoplasia, type 9
  • Spastic paraplegia 63, autosomal recessive

From UniProt:

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. [MIM:615686]

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. [MIM:615809]

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3

Molecular Location: base pairs 109,619,813 to 109,632,055 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.3, which is the short (p) arm of chromosome 1 at position 13.3
  • PCH9
  • SPG63