Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that in humans is encoded by the TIMM8A gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

This translocase

Translocase

Translocase is a general term for an enzyme that assists in moving another molecule, usually across a membrane.Translocases are most common secretion system in Gram positive bacteria.Examples include:...

 has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm

Cytoplasm

The cytoplasm is a small gel-like substance residing between the cell membrane holding all the cell's internal sub-structures , except for the nucleus. All the contents of the cells of prokaryote organisms are contained within the cytoplasm...

 into the mitochondrial inner membrane. The gene is mutated in Deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome

Mohr-Tranebjaerg syndrome

Mohr–Tranebjærg syndrome is a rare X-liked recessive syndrome also known as Deafness-dystonia syndrome and caused by mutation in the TIMM8A gene. It was first described in 1960...

; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.

Interactions

TIMM8A has been shown to interact

Protein-protein interaction

Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...

 with Signal transducing adaptor molecule and TIMM13

TIMM13

Mitochondrial import inner membrane translocase subunit Tim13 is an enzyme that in humans is encoded by the TIMM13 gene.-Further reading:...

.

External links

• The Deafness Dystonia Protein DDP and Mitochondrial Division - a free videolecture by Craig Blackstone, 2002.