Entrez Summary: 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].
UniProt Summary: Involved in biogenesis of mitochondrial ATP synthase. {ECO:0000269|PubMed:18953340, ECO:0000269|PubMed:20937241}.
Pfam DomainsGO Terms
Pfam Domains
DUF1301
GO Terms
mitochondrial proton-transporting ATP synthase complex assembly