Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A (TIMM8A) Human Recombinant Protein

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]

TIMM8A: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development. Defects in TIMM8A are the cause of Mohr-Tranebjaerg syndrome (MTS); also known as dystonia-deafness syndrome (DDS) or X-linked progressive deafness type 1 (DFN-1). It is a recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. Defects in TIMM8A are the cause of Jensen syndrome (JENSS); also known as opticoacoustic nerve atrophy with dementia. This X-linked disease is characterized by deafness, blindness and muscle weakness. Belongs to the small Tim family.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: Xq22.1

Cellular Component: mitochondrion; mitochondrial inner membrane; mitochondrial intermembrane space

Molecular Function: metal ion binding

Biological Process: nervous system development; cellular protein metabolic process; protein targeting to mitochondrion

Disease: Mohr-tranebjaerg Syndrome; Opticoacoustic Nerve Atrophy With Dementia