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- Table of Contents
Facts about Mitochondrial import inner membrane translocase subunit Tim8 A.
Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and direct them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins like TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the overriding TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins.
Human | |
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Gene Name: | TIMM8A |
Uniprot: | O60220 |
Entrez: | 1678 |
Belongs to: |
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small Tim family |
DDP1deafness/dystonia peptide; DDPMGC12262; Deafness dystonia protein 1; DFN1; mitochondrial import inner membrane translocase subunit Tim8 A; MTSTIM8; TIM8A; translocase of inner mitochondrial membrane 8 (yeast) homolog A; translocase of inner mitochondrial membrane 8 homolog A (yeast); X-linked deafness dystonia protein
Mass (kDA):
10.998 kDA
Human | |
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Location: | Xq22.1 |
Sequence: | X; NC_000023.11 (101345661..101348742, complement) |
Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.
Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.
PMID: 8841189 by Jin H., et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
PMID: 10051608 by Koehler C.M., et al. Human deafness dystonia syndrome is a mitochondrial disease.