MT-ATP6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MT-ATP6 wild-type allele is located within the circular mitochondrial (MT) chromosome and is approximately 681 bases in length. This allele, which encodes ATP synthase subunit a protein, plays a role in proton-transport and ATP synthesis. Mutation of the gene is associated with neuropathy, ataxia, and retinitis pigmentosa (NARP); Leber hereditary optic neuropathy (LHON); Leigh syndrome (LS); mitochondrial infantile bilateral striatal necrosis (MIBSN); myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3); adult-onset ataxia and polyneuropathy (APAO); infantile hypertrophic cardiomyopathy (CMHI); and mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 (MC5DM1).

**Synonyms:** - ATP Synthase 6 Gene - ATP6 - ATPASE-6 - ATPase-6 - ATPase6 - Complex V, ATP Synthase, Subunit ATPase6 Gene - MTATP6 - Mitochondrially Encoded ATP Synthase Gene - Mitochondrially Encoded ATP Synthase Membrane Subunit 6 wt Allele - Mitochondrially Encoded ATP Synthase Membrane Subunit A Gene - Spicular Retinitis Pigmentosa with Dementia, Seizures, Ataxia, Proximal Muscle Weakness and Sensory Deficit Gene - Su6m