ATAD3A

Description

The ATAD3A (ATPase family AAA domain containing 3A) is a protein-coding gene located on chromosome 1.

ATAD3A plays a crucial role in maintaining mitochondrial health and function. It is essential for the organization of the mitochondrial network, proper mitochondrial metabolism, and cell growth at both the cellular and organismal levels. ATAD3A may also participate in mitochondrial protein synthesis and DNA replication, and it can bind to mitochondrial DNA D-loops to contribute to nucleoid stability. This protein is required for efficient cholesterol channeling during hormone-dependent steroidogenesis. Furthermore, ATAD3A is involved in mitochondrial-mediated antiviral innate immunity.

ATAD3A is also known as HAYOS, PHRINL.

Associated Diseases

• Ocular anomalies-axonal neuropathy-developmental delay syndrome
• Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
• Harel-Yoon syndrome