TIMM8A Rabbit polyclonal antibody

Size

£151.00

SKU:: A9811
Additional Names:: DDP|DDP1|DFN1|MTS|TIM8|TIMM8A
Application:: ELISA, WB, IF, ICC
Molecular Weight:: 11kDa
Species Reactivity:: Human
Purification:: Affinity Purified
Storage Conditions:: -20[o]C Avoid freeze/thaw cycles.
Supplier:: Abclonal
Host:: Rabbit
Reactivities:: Human, Mouse, Rat
Immunogen:: Recombinant protein (or fragment).This information is considered to be commercially sensitive.
Formulation:: Unmodified
Sequence:: MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD
Uniprot:: O60220
Synonyms:: DDP;DDP1;deafness dystonia protein 1;deafness/dystonia peptide;DFN1;mitochondrial import inner membrane translocase subunit Tim8 A;MTS;TIM8;translocase of inner mitochondrial membrane 8 homolog A;X-linked deafness dystonia protein
Extra Details:: 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.