ATAD3B

Chr 1

ATPase family AAA domain containing 3B

Also known as: AAA-TOB3, TOB3

NCBI Gene: 83858 ENSG00000160072 UniProt: Q5T9A4 OMIM: 612317

ATAD3B encodes a mitochondrial inner membrane protein that negatively regulates ATAD3A's interaction with matrix nucleoid complexes and may organize mitochondrial networks in stem cells by reducing mitochondrial metabolism and fragmenting the mitochondrial network. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems. The gene shows tolerance to loss-of-function variants in the general population (LOEUF 1.477), suggesting pathogenic variants may require specific functional consequences rather than simple protein loss.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.48

LOEUF

Multiple*

Mechanism· predicted