Basic Information

Symbol
MT-ATP6
RNA class
mRNA
Alias
Mitochondrially Encoded ATP Synthase Membrane Subunit 6 ATP6 MTATP6 ATPase-6 Su6m Spicular Retinitis Pigmentosa With Dementia, Seizures, Ataxia, Proximal Muscle Weakness And Sensory Deficit Proton-Conducting Channel, ATP Synthase F(0) Complex Subunit A Mitochondrially Encoded ATP Synthase Membrane Subunit A Mitochondrially Encoded ATP Synthase 6 ATP Synthase F(0) Complex Subunit A ATP Synthase F0 Subunit 6 F-ATPase Protein 6 ATP Synthase 6 ATPase6 ATPASE6 RP
Location (GRCh38)
MT:8527-9207
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
-
Sequence length
- nt
GC content
-
Summary

Enables proton channel activity. Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis and proton transmembrane transport. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Jul 2025]

Forensic Context

A study in mice demonstrated that the MT-ATP6 was the most substantially upregulated gene exclusively after burn injury in the primary somatosensory cortex, being associated with mitochondrial oxidative phosphorylation [Erdei et al. DOI:10.3390/ijms26083538]. In human sepsis patients, RNA-sequencing of serum identified the MT-ATP6 as a differentially expressed mRNA that was downregulated [Yu et al. DOI:10.1016/j.heliyon.2023.e15034].