ACADM acyl-CoA dehydrogenase medium chain
Gene ID: 34, updated on 3-Nov-2024Gene type: protein coding
Also known as: MCAD; ACAD1; MCADH
- See all available tests in GTR for this gene
- Go to complete Gene record for ACADM
- Go to Variation Viewer for ACADM variants
Summary
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide perspective of genetic variation in human metabolism. GeneReviews: Not available | |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | not available |
Genomic context
- Location:
- 1p31.1
- Sequence:
- Chromosome: 1; NC_000001.11 (75724709..75763679)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACADM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation 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.