Previous symbols: MTATP6, RP. Aliases: ATP6, ATPase-6, Su6m.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Adult-Onset Ataxia and Polyneuropathy | causative germline partial loss of function |
mechanism: MT-ATP6 m.8993T>C Variant
|
| Leigh Syndrome | causative germline |
mechanism: MT-ATP6 ATP synthase (complex V) dysfunction
subtype: MILS
scoped to subtype: MILS
|
| MT-ATP6/MT-ATP8-Related Infantile Hypertrophic Cardiomyopathy | causative germline |
mechanism: m.8528T>C Substitution in the MT-ATP6/MT-ATP8 Overlap
variant: m.8528T>C
|
| Myopathy, Lactic Acidosis, and Sideroblastic Anemia | causative de novo |
mechanism: MT-ATP6 complex V respiratory defect
subtype: MLASA3
|
| Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome | unknown germline |
mechanism: Large-Scale Mitochondrial DNA Duplication
|
| NARP syndrome |
untyped
Causal pathogenic mitochondrial DNA variants, including canonical nucleotide 8993 substitutions, with heteroplasmy-dependent NARP/MILS severity
|
mechanism: MT-ATP6 ATP synthase dysfunction
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Leigh syndrome MONDO:0009723 | MT | Definitive 2021-06-28 |
Leigh Syndrome
causative
|
| mitochondrial disease MONDO:0044970 | MT | Definitive 2023-05-18 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.