Aliases for TIMM8B Gene
External Ids for TIMM8B Gene
Previous GeneCards Identifiers for TIMM8B Gene
This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]
GeneCards Summary for TIMM8B Gene
TIMM8B (Translocase Of Inner Mitochondrial Membrane 8 Homolog B) is a Protein Coding gene. Diseases associated with TIMM8B include Dystonia and Mohr-Tranebjaerg Syndrome. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is TIMM8A.
UniProtKB/Swiss-Prot Summary for TIMM8B Gene
Probable 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 (By similarity).