Symbol: Name: ID: |
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) GFS:1632 |
Gene name: | TIMM8A |
Chromosome: | Xq22 |
Previous Symbols: | DFN1 |
Previous Names: | translocase of inner mitochondrial membrane 8 (yeast) homolog A |
Aliases: | DDP, MTS |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1353433 | Rat Genome Database ID: | |
HGNC ID: | HGNC:11817 | RefSeq IDs: | NM_001145951 |
Entrez Gene ID: | 1678 | Ensembl Gene ID: | ENSG00000126953 |
VEGA IDs: | OTTHUMG00000022028 | UniProt ID: | O60220 |
UCSC ID: | uc004ehd.2 | OMIM ID: | 300356 |
Pubmed: | PMID10552927 PMID 8841189 | ||
CCDS IDs: | CCDSCCDS14481.1 |
Mitochondrial import inner membrane translocase subunit Tim8 A 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.
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.
Products for TIMM8A gene
Catalog | Product Name | Application | Company |
GFS:E01632 | translocase of inner mitochondrial membrane 8 homolog A (yeast); ELISA kit | ELISA | n/a |
GFS:A01632 | translocase of inner mitochondrial membrane 8 homolog A (yeast); Anti | ANTIBODIES | n/a |
GFS:P01632 | translocase of inner mitochondrial membrane 8 homolog A (yeast); Protien | Protien | n/a |