HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

TIMM8A ( Human )

Entrez Gene 1678 entrezgene 1678
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translocase of inner mitochondrial membrane 8A

Alias

DDP | DDP1 | DFN1 | MTS | TIM8

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].