Recombinant Human ATPase family AAA domain-containing protein 3A (ATAD3A), Truncated

Uniprot Id

Q9NVI7

Target Species

Human

Target Name

ATAD3A

Target Full Name

ATPase family AAA domain-containing protein 3A

Target Function

Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis. Involved in mitochondrial-mediated antiviral innate immunity.

Target Involvement

Harel-Yoon syndrome (HAYOS)

Target Subcellular Location

Mitochondrion inner membrane; Single-pass membrane protein. Mitochondrion matrix, mitochondrion nucleoid.

Target Protein Families

AAA ATPase family

Target Tissue Specificity

Overexpressed in lung adenocarcinomas (at protein level).

Target Synonyms

ATAD3A; ATPase family AAA domain-containing protein 3A

Target Background

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.