atad-3

Caenorhabditis elegans

Predicted to enable ATP binding activity and ATP hydrolysis activity. Involved in mitochondrion organization. Located in mitochondrion. Human ortholog(s) of this gene implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome. Is an ortholog of human ATAD3A (ATPase family AAA domain containing 3A) and ATAD3B (ATPase family AAA domain containing 3B).

Atad3a

Rattus norvegicus

Predicted to enable identical protein binding activity. Predicted to be involved in several processes, including antiviral innate immune response; negative regulation of apoptotic process; and regulation of cell growth. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome. Orthologous to several human genes including ATAD3A (ATPase family AAA domain containing 3A); INTERACTS WITH (+)-schisandrin B; 1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane; 17alpha-ethynylestradiol.

Atad3a

Homo sapiens

This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]