The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the TMEM70 gene are a rare cause of mitochondrial respiratory chain disorders. Due to a founder effect, the c.317-2A>G variant is a common cause of ATP synthase deficiency in the Roma population.
TMEM70 encodes a protein that localizes to the mitochondrial membrane where it stabilizes ATP synthase, allowing ATP production during oxidative phosphorylation.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|