| Gene Symbol |
TIMM8A
|
| Entrez Gene |
1678
|
| Alt Symbol |
DDP, DDP1, DFN1, MTS, TIM8
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
| Other Description |
X-linked deafness dystonia protein|deafness dystonia protein 1|deafness/dystonia peptide|mitochondrial import inner membrane translocase subunit Tim8 A
|
| Swissprots |
Q6IRW6 B2R5A6 O60220
|
| Accessions |
EAX02853 EAX02854 O60220 AK312117 BAG35053 AW204693 BC005236 BC006994 AAH06994 BC015093 AAH15093 BC070284 AAH70284 BM467820 BQ013177 CN410182 U66035 AAC15946 NM_001145951 NP_001139423 NM_004085 NP_004076 NM_032696
|
| Function |
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. {ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:15254020}.
|
| Subcellular Location |
Mitochondrion inner membrane {ECO:0000269|PubMed:11489896}; Peripheral membrane protein {ECO:0000269|PubMed:11489896}; Intermembrane side {ECO:0000269|PubMed:11489896}.
|
| Tissue Specificity |
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.
|