TIMM8A, Official Symbol TIMM8Aprovided by HGNC Official Full Name translocase of inner mitochondrial membrane 8Aprovided by HGNC Primary source HGNC:HGNC:11817 See related Ensembl:ENSG00000126953 MIM:300356; AllianceGenome:HGNC:11817 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DDP; MTS; DDP1; DFN1; TIM8 Summary This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] Expression Ubiquitous expression in liver (RPKM 4.3), kidney (RPKM 2.9) and 25 other tissues See more Orthologs mouse all