TMEM70

Chr 8AR

transmembrane protein 70

Also known as: MC5DN2

NCBI Gene: 54968 ENSG00000175606 UniProt: Q9BUB7 OMIM: 612418

The protein is a mitochondrial inner membrane protein involved in the biogenesis of mitochondrial ATP synthase (complex V). Mutations cause autosomal recessive mitochondrial complex V deficiency, typically presenting as neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2MIM #614052

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TMEM70