Rabbit anti-Human TIMM8A Polyclonal Antibody

Uniprot Id

O60220

Target Species

Human

Target Name

TIMM8A

Target Full Name

Mitochondrial import inner membrane translocase subunit Tim8 A

Target Function

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.

Target Involvement

Mohr-Tranebjaerg syndrome (MTS)

Target Subcellular Location

Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.

Target Protein Families

Small Tim family

Target Tissue Specificity

Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.

Target Research Area

Signal Transduction

Target Synonyms

DDP 1; DDP; DDP1; Deafness dystonia protein 1; Deafness/dystonia peptide; DFN 1; DFN1; MGC12262; Mitochondrial import inner membrane translocase subunit Tim8 A; MTS; TIM 8A; TIM8; TIM8A; TIM8A_HUMAN; TIMM 8A; timm8a; Translocase of inner mitochondrial membrane 8 homolog A; X linked deafness dystonia protein; X-linked deafness dystonia protein

Target Background

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.