Aliases for ATAD3B Gene
External Ids for ATAD3B Gene
Previous GeneCards Identifiers for ATAD3B Gene
The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
GeneCards Summary for ATAD3B Gene
ATAD3B (ATPase Family AAA Domain Containing 3B) is a Protein Coding gene. Diseases associated with ATAD3B include Pontocerebellar Hypoplasia, Type 4 and Pontocerebellar Hypoplasia, Type 3. Among its related pathways are Innate Immune System. An important paralog of this gene is ATAD3A.
UniProtKB/Swiss-Prot Summary for ATAD3B Gene
May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes.