ATAD1 ATPase family AAA domain containing 1
Gene ID: 84896, updated on 3-Apr-2024Gene type: protein coding
Also known as: Msp1; AFDC1; HKPX4; FNP001; hATAD1; THORASE
- See all available tests in GTR for this gene
- Go to complete Gene record for ATAD1
- Go to Variation Viewer for ATAD1 variants
Summary
Predicted to enable ATP binding activity and transmembrane protein dislocase activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hyperekplexia 4 | See labs |
Genomic context
- Location:
- 10q23.31
- Sequence:
- Chromosome: 10; NC_000010.11 (87751512..87841361, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATAD1 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
- Variation ViewerRelated Variants
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