Human Gene TMEM70 (uc003yab.3) Description and Page Index
Description: Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_017866): 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]. Transcript (Including UTRs) Position: hg19 chr8:74,888,377-74,895,018 Size: 6,642 Total Exon Count: 3 Strand: + Coding Region Position: hg19 chr8:74,888,517-74,893,856 Size: 5,340 Coding Exon Count: 3
ID:TMM70_HUMAN DESCRIPTION: RecName: Full=Transmembrane protein 70, mitochondrial; Flags: Precursor; FUNCTION: Involved in biogenesis of mitochondrial ATP synthase. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. DISEASE: Defects in TMEM70 are a cause of mitochondrial complex V deficiency nuclear type 2 (MC5DN2) [MIM:614052]. A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. SIMILARITY: Belongs to the TMEM70 family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TMEM70 CDC HuGE Published Literature: TMEM70
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF06979 - Assembly, mitochondrial proton-transport ATP synth complex
ModBase Predicted Comparative 3D Structure on Q9BUB7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.