ATPase family AAA domain containing 1
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalParoxysmal central nervous system disorders
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalhyperekplexia 4
hereditary hyperekplexia
neurodegenerative disease
placenta praevia
Hypocalcemia
hereditary disease
hypothyroidism
malaria
infection
type 2 diabetes mellitus
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Outer mitochondrial transmembrane helix translocase
Outer mitochondrial translocase required to remove mislocalized tail-anchored transmembrane proteins on mitochondria (PubMed:24843043). Specifically recognizes and binds tail-anchored transmembrane proteins: acts as a dislocase that mediates the ATP-dependent extraction of mistargeted tail-anchored transmembrane proteins from the mitochondrion outer membrane (By similarity). Also plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory (By similarity). Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity)
ATAD1 · Q8NBU5
Mean pLDDT
84.1/ 100
Confident
361 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
