Gene Symbol | TMEM70 |
Entrez Gene ID | 54968 |
Full Name | transmembrane protein 70 |
Synonyms | MC5DN2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3) |