TIMM8A Break Apart FISH Probe

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]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
TIMM8ABA-20-REGO 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-REGR 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-ORGR 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-GOGR 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-GRRE 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-GROR 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-GRGO 20 (40 μL) 200 μL color color Request Pricing
TIMM8ABA-20-AQOR 20 (40 μL) 200 μL color color Request Pricing

Gene 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]

Gene Details

Gene Symbol : TIMM8A

Gene Name : Translocase of inner mitochondrial membrane 8A

Chromosome : CHR X: 101,348,968-101,345,655

Locus : Xq22.1

Alt. Genes : CELA3A

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