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MTDPS4A
Chr 15ARDNA polymerase gamma, catalytic subunit
Also known as: MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, PolG-alpha, SANDO
The encoded protein is the catalytic subunit of mitochondrial DNA polymerase, which replicates mitochondrial DNA. Mutations cause mitochondrial DNA depletion syndrome 4A (Alpers type), characterized by progressive neurodegeneration, hepatopathy, and seizures typically presenting in infancy or early childhood. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MTDPS4A?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
MTDPS4A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools