Anti-TIMM8A/DDP Antibody Picoband®

SKU: A07659-1

Size: 100 μg

Storage: Store at -20℃ for one year from date of receipt. After reconstitution, at 4℃ for one month. It can also be aliquotted and stored frozen at -20℃ for six months. Avoid repeated freeze-thaw cycles.

Form: Lyophilized

Reactivity: Human,Mouse,Rat,Monkey

Applications: WB,IHC,ICC,IF,ELISA

Application Details: Western blot, 0.25-0.5μg/ml, Human, Mouse, Rat, Monkey
Immunohistochemistry (Paraffin-embedded Section), 2-5μg/ml, Human, Rat
Immunocytochemistry/Immunofluorescence, 5μg/ml, Human
ELISA, 0.1-0.5μg/ml, -

Gene Name: TIMM8A

Specificity:

Background: Mitochondrial import inner membrane translocase subunit Tim8 A, also known as Deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene. 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.

Immunogen: E.coli-derived human TIMM8A/DDP recombinant protein (Position: A14-D97).

Clonality: Polyclonal

Contents: Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.01mg NaN3.

Purification: Immunogen affinity purified.

Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.

Reference: 1. Aguirre, L. A., del Castillo, I., Macaya, A., Meda, C., Villamar, M., Moreno-Pelayo, M. A., Moreno, F. A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome. Am. J. Med. Genet. 140A: 392-397, 2006. 2. Ezquerra, M., Campdelacreu, J., Munoz, E., Tolosa, E., Marti, M. J. A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. Arch. Neurol. 62: 306-308, 2005. 3. Hofmann, S., Rothbauer, U., Muhlenbein, N., Neupert, W., Gerbitz, K.-D., Brunner, M., Bauer, M. F. The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1-TIM13 complexes in the mitochondrial intermembrane space. J. Biol. Chem. 277: 23287-23293, 2002.

Uniprot ID: O60220

Host: Rabbit

Concentration: Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.

Conjugate:

Cross Reactivity: No cross-reactivity with other proteins.

Isotype: Rabbit IgG

Phospho_site:

Clone Number:

Observed Molecular Weight: 13-14 kDa

Calculated Molecular Weight: 157578 MW

Gene ID: 1678

Protein Name: Mitochondrial import inner membrane translocase subunit Tim8 A

Gene Full Name: translocase of inner mitochondrial membrane 8A

Synonyms: DDP; DDP1; Deafness dystonia protein 1; DFN1; MTS; TIM8; TIM8A; TIMM8A