AMPD1 adenosine monophosphate deaminase 1
Gene ID: 270, updated on 22-Apr-2024Gene type: protein coding
Also known as: MAD; MADA; MMDD
- See all available tests in GTR for this gene
- Go to complete Gene record for AMPD1
- Go to Variation Viewer for AMPD1 variants
Summary
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variants on 1p13.2 associate with risk of autism. GeneReviews: Not available | |
| Muscle AMP deaminase deficiency | See labs |
Genomic context
- Location:
- 1p13.2
- Sequence:
- Chromosome: 1; NC_000001.11 (114673098..114695546, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AMPD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AMPD1 database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.