AMPD2 adenosine monophosphate deaminase 2
Gene ID: 271, updated on 22-Apr-2024Gene type: protein coding
Also known as: AMPD; PCH9; SPG63
- See all available tests in GTR for this gene
- Go to complete Gene record for AMPD2
- Go to Variation Viewer for AMPD2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of recurrent early-onset major depressive disorder. GeneReviews: Not available | |
| Hereditary spastic paraplegia 63 | See labs |
| Pontocerebellar hypoplasia type 9 | See labs |
Genomic context
- Location:
- 1p13.3
- Sequence:
- Chromosome: 1; NC_000001.11 (109619837..109632055)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AMPD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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