Preferred Label : MT-ATP6 wt Allele;
NCIt synonyms : Mitochondrially Encoded ATP Synthase Membrane Subunit A Gene; ATP6; Mitochondrially Encoded ATP Synthase Membrane Subunit 6 wt Allele; Su6m; Complex V, ATP Synthase, Subunit ATPase6 Gene; ATPASE-6; ATPase6; MTATP6; Mitochondrially Encoded ATP Synthase Gene; ATP Synthase 6 Gene; Spicular Retinitis Pigmentosa with Dementia, Seizures, Ataxia, Proximal Muscle Weakness
and Sensory Deficit Gene;
NCIt 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).;
NCI Metathesaurus CUI : CL1926479;
GenBank Accession Number : YP_003024031;
Origin ID : C203820;
UMLS CUI : C5891016;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
