Gene: ATAD3A

Alternate names for this Gene: HAYOS|PHRINL

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.33

Description of this Gene: ATPase family AAA domain containing 3A

Type of Gene: protein-coding

rs1057517686 in ATAD3A gene and Cardiomyopathies PMID 27640307 2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

rs1057517686 in ATAD3A gene and Global developmental delay PMID 27640307 2016 We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.

rs1057517686 in ATAD3A gene and Optic Atrophy PMID 27640307 2016 We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.

rs1057517686 in ATAD3A gene and Peripheral Neuropathy PMID 27640307 2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.