AMPD2

Chr 1

adenosine monophosphate deaminase 2

Also known as: AMPD, PCH9, SPG63

NCBI Gene: 271 ENSG00000116337 UniProt: Q01433

The protein converts AMP to IMP as part of the purine nucleotide cycle, functioning as a homotetramer that plays a critical role in cellular energy metabolism. Mutations cause autosomal recessive spastic paraplegia 63 and pontocerebellar hypoplasia type 9, affecting the central nervous system with early-onset developmental abnormalities. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPontocerebellar hypoplasia 9

UniProtSpastic paraplegia 63, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.64

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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