ATAD1 Chromosome 10

ATPase family AAA domain containing 1

3 variants 3 Health Risk

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What This Gene Does

Predicted to enable ATP hydrolysis activity. Involved in extraction of mislocalized protein from mitochondrial outer membrane. Located in mitochondrial outer membrane and peroxisomal membrane. Implicated in hyperekplexia 4. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

AAA ATPases

Locus Type

gene with protein product

Location

10q23.31

Ensembl

ENSG00000138138

Associated Conditions (1)

Hyperekplexia 4

Key Variants

RS1262126778

Pathogenic

Health Risk

RS1554874859

Pathogenic/Likely pathogenic

Hyperekplexia 4, Hyperekplexia 4

Health Risk

RS751499706

Pathogenic/Likely pathogenic

Hyperekplexia 4, Hyperekplexia 4

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1262126778	Health Risk	Pathogenic	—
RS1554874859	Health Risk	Pathogenic/Likely pathogenic	Hyperekplexia 4, Hyperekplexia 4
RS751499706	Health Risk	Pathogenic/Likely pathogenic	Hyperekplexia 4, Hyperekplexia 4