名称：TIMM8A

别名：DDP; MTS; DDP1; DFN1; TIM8

Targets：Disease

描述

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.

Specification

Swissprot：O60220

Gene Accession：BC006994

Host/Isotype：Rabbit IgG

Antibody Type：Primary antibody

Storage：Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.

Species Reactivity：Human, Mouse, Rat

免疫原：Fusion protein of human TIMM8A

Formulation：Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.

Application

Application：IHC

IHC：1/40-1/200

ELISA：1/5000-1/10000

宿主：Rabbit