TMEM70 gene

transmembrane protein 70

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Involved in biogenesis of mitochondrial ATP synthase.

From NCBI Gene:

  • Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2

From UniProt:

Mitochondrial complex V deficiency, nuclear 2 (MC5DN2): 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. [MIM:614052]

Cytogenetic Location: 8q21.11, which is the long (q) arm of chromosome 8 at position 21.11

Molecular Location: base pairs 73,976,142 to 73,982,783 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q21.11, which is the long (q) arm of chromosome 8 at position 21.11
  • MC5DN2