Rabbit anti-Human TIMM8A Polyclonal Antibody | anti-TIMM8A antibody

TIMM8A Antibody

Cat. Num. AAA7045636

• Gene Names: TIMM8A; DDP; MTS; DDP1; DFN1; TIM8
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry
• Purity: Antigen Affinity Purified
• Synonyms: TIMM8A; Polyclonal Antibody; TIMM8A Antibody; Mitochondrial import inner membrane translocase subunit Tim8 A; Deafness dystonia protein 1; X-linked deafness dystonia protein; DDP; DDP1; TIM8A; anti-TIMM8A antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Antigen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 97

• Applicable Applications for anti-TIMM8A antibody: ELISA (EIA), Immunohistochemistry (IHC)
• Application Notes: Recommended dilution: IHC: 1:20-1:200
• Species: Human
• Immunogen: Recombinant human Mitochondrial import inner membrane translocase subunit Tim8 A protein (1-97AA)
• Conjugate: Non-conjugated
• Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
• Santa Cruz Alternative: Potential replacement for Santa Cruz Biotechnology antibody catalog# sc-17052
• Preparation and Storage: Shipped at 4 degree C. Upon delivery aliquot and store at -20 degree C or -80 degree C. Avoid repeated freeze.

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human liver cancer tissue using MBS7045636 at dilution 1:100)

Related Product Information for anti-TIMM8A antibody

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.

NCBI and Uniprot Product Information

• NCBI GI #: 4758152
• NCBI GeneID: 1678
• NCBI Accession #: NP_004076.1
• NCBI GenBank Nucleotide #: NM_004085.3
• UniProt Accession #: O60220; Q6IRW6; B2R5A6
• Molecular Weight: 10,998 Da
• NCBI Official Full Name: mitochondrial import inner membrane translocase subunit Tim8 A isoform 1
• NCBI Official Synonym Full Names: translocase of inner mitochondrial membrane 8 homolog A (yeast)
• NCBI Official Symbol: TIMM8A
• NCBI Official Synonym Symbols: DDP; MTS; DDP1; DFN1; TIM8
• NCBI Protein Information: mitochondrial import inner membrane translocase subunit Tim8 A
• UniProt Protein Name: Mitochondrial import inner membrane translocase subunit Tim8 A
• Protein Family: Mitochondrial import inner membrane translocase
• UniProt Gene Name: TIMM8A
• UniProt Synonym Gene Names: DDP; DDP1; TIM8A
• UniProt Entry Name: TIM8A_HUMAN

NCBI Description

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.[provided by RefSeq, Mar 2009]

Uniprot Description

TIMM8A: 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. Defects in TIMM8A are the cause of Mohr-Tranebjaerg syndrome (MTS); also known as dystonia-deafness syndrome (DDS) or X-linked progressive deafness type 1 (DFN-1). It is a recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. Defects in TIMM8A are the cause of Jensen syndrome (JENSS); also known as opticoacoustic nerve atrophy with dementia. This X-linked disease is characterized by deafness, blindness and muscle weakness. Belongs to the small Tim family.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: Xq22.1

Cellular Component: mitochondrial intermembrane space; mitochondrion

Molecular Function: protein binding

Biological Process: nervous system development

Disease: Mohr-tranebjaerg Syndrome; Opticoacoustic Nerve Atrophy With Dementia