Aliases for TOMM40 Gene
External Ids for TOMM40 Gene
Previous GeneCards Identifiers for TOMM40 Gene
The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
GeneCards Summary for TOMM40 Gene
TOMM40 (Translocase Of Outer Mitochondrial Membrane 40) is a Protein Coding gene. Diseases associated with TOMM40 include Charcot-Marie-Tooth Neuropathy Type 2A and Early-Onset, Autosomal Dominant Alzheimer Disease. Among its related pathways are Pink/Parkin Mediated Mitophagy and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include porin activity and protein transmembrane transporter activity. An important paralog of this gene is TOMM40L.
UniProtKB/Swiss-Prot for TOMM40 Gene
Channel-forming protein essential for import of protein precursors into mitochondria.