The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. The human MT-ATP6 gene, located in mitochondrial DNA, is 681 base pairs in length. [7] An unusual feature of MT-ATP6 is the 46-nucleotide gene overlap of its first codons with the end of the MT-ATP8 gene.

The MT-ATP6 gene provides information for making a protein that is essential for normal mitochondrial function. Learn about this gene and related health conditions.

Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in CV subunit gene, MT-ATP6, was among the first described human mitochondrial DNA (mtDNA) ...

Mar 30, 2025 · MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6) is a Protein Coding gene. Diseases associated with MT-ATP6 include Neuropathy, Ataxia, And Retinitis Pigmentosa and Leigh Syndrome, Mitochondrial.

The MT-ATP6 gene of the mitochondrial DNA (mtDNA) (further named ATP6) encodes a subunit of the F 1 F 0 ATP-synthase complex, a key enzyme of mitochondrial energy metabolism.

Pathogenic MT-ATP6 variants resulted in diverse biochemical features. The most common findings were reduced ATP synthesis rate, preserved ATP hydrolysis capacity, and abnormally increased mitochondrial membrane potential.

Apr 7, 2025 · Title: A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies. Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.

Jan 5, 2025 · Clinical resource with information about MT-ATP6, NARP syndrome, Leber optic atrophy, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Data indicate three syndromic congenital sideroblastic anemias (CSAs) patients carrying the mitochondrially encoded ATP synthase 6 (m.8969 MT-ATP6) variant, defining the clinical spectrum of ATP6-mutation associated sideroblastic anemias (ATP6-SA).

Mar 20, 2025 · In this article, we present an international multicenter study designed to provide a retrospective natural history of patients with MT-ATP6/8 deficiency and to identify primary and secondary end points for future clinical trials.