Gene Function

Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain – the catalytic core – and a membrane F(1) domain – the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). With the subunit c (ATP5MC1), forms the proton-conducting channel in the F(0) domain, that contains two crucial half-channels (inlet and outlet) that facilitate proton movement from the mitochondrial intermembrane space (IMS) into the matrix. Protons are taken up via the inlet half-channel and released through the outlet half-channel, following a Grotthuss mechanism Source: UniProt

Relationship to CMT

Unclassified Mito
1 subtype
MT

First described 2019
Mitochondrial involvement

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT-ATP6	Inheritancemitochondrial inheritance	ClassUnclassified Subtypes	OMIMn/a	Sentinel Publication A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy 2019 · 10.3233/JND-190400

Stored Identifiers

No HGNC Aliases

hgnc_idHGNC:7414

ensembl_gene_idENSG00000198899

coords_grch38chrMT:8527-9207

coords_grch37chrMT:8527-9207

entrez_id4508

omim_gene516060

uniprot_idsP00846

refseq_accessionYP_003024031

mane_refseqnot applicable

mane_ensemblnot applicable

External recordsHGNC:7414OMIM 516060gnomADUniProt P00846ClinVar P/LPOrphanet

EvidencePanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in MT-ATP6, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

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