MTDPS7
Chr 10ARtwinkle mtDNA helicase
Also known as: ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5
This gene encodes a hexameric DNA helicase that unwinds double-stranded DNA in the 5' to 3' direction and plays a key role in mitochondrial DNA replication along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma. Mutations cause mitochondrial DNA depletion syndrome 7 (hepatocerebral type), which can present with infantile onset spinocerebellar ataxia and progressive external ophthalmoplegia. The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MTDPS7?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MTDPS7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools