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AMPD2

adenosine monophosphate deaminase 2
2 disorders 2 untyped 1p13.3 gene with protein product
HGNC:469MonarchNCBI Gene 271ENSG00000116337UniProt Q01433OMIM 102771

Aliases: SPG63.

Normal function · from ai-gene-review (Q01433, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Complex Hereditary Spastic Paraplegia untyped
mechanism: Purine Nucleotide Metabolic Imbalance
subtype: SPG63
scoped to subtype: SPG63
Pontocerebellar Hypoplasia untyped
Causative
mechanism: Purine Nucleotide Metabolism Failure
subtype: PCH9
scoped to subtype: PCH9

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.