External Ids for TMEM70 Gene
Previous GeneCards Identifiers for TMEM70 Gene
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]
GeneCards Summary for TMEM70 Gene
TMEM70 (Transmembrane Protein 70) is a Protein Coding gene. Diseases associated with TMEM70 include Mitochondrial Complex V Deficiency, Nuclear Type 2 and Tmem70 Defect.
UniProtKB/Swiss-Prot for TMEM70 Gene
Involved in biogenesis of mitochondrial ATP synthase.