Description:TIMM8A is a mitochondrial intermembrane chaperone that is involved in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. It also acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. TIMM8A is probably necessary for normal neurologic development. TIMM8A is a heterohexamer composed of three TIMM8A and three TIMM13 subunits, named soluble 70KDa complex. It associates with the TIMM22 complex. It is located at the mitochondrion inner membrane and is highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Defects in TIMM8A cause Mohr-Tranebjaerg syndrome (MTS) also known as dystonia-deafness syndrome (DDS) or X-linked progressive deafnes type 1 (DFN-1). This is a recessive neurodegenerative syndrome characterised by progressive deafness, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. Defects in TIMM8A are also the cause of Jensen syndrom, also known as opticoacoustic nerve atrophy with dementia. This is an X-linked disease characterised by deafness, blindess and muscle weakness.
Size: 100 ug
Host: Mouse Isotype:
Applications: WB; IHC, Frozen; ELISA
Recommended Dilutions: This antibody is recommended for WB, IHC and sandwich ELISA. For IHC, a concentration of 3 µg/mL is recommended. Biosensis recommends optimal dilutions/concentrations should be determined by the end user.
Clone Name: 2F11
Formation: Lyophilized from PBS pH 7.2
Immunogen: Partial recombinant protein of human Deafness dystonia protein 1 (aa 9 to 98) with a GST tag.
Purity: Protein G purified immunoglobulin
Reconstitution: Reconstitute in 100 µL of sterile water. Centrifuge to remove any insoluble material.
Species Reactivity: Human. Other species have not been tested.
Specification: Specificity has been confirmed by WB and direct ELISA against the antigen. | Human. Other species have not been tested.
Shipping Conditions: 25°C (Ambient)
Storage Conditions: After reconstitution keep aliquots at -20 ºC for higher stability or at 4 ºC with an appropriate antibacterial agent. Glycerol (1:1) may be added for additional stability. Avoid repetitive freeze/thaw cycles.