ATP binding cassette subfamily A member 2
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalintellectual developmental disorder with poor growth and with or without seizures or ataxia
autosomal recessive non-syndromic intellectual disability
cutaneous mastocytosis
lymphatic system disorder
mastocytosis
Alzheimer disease
Eczematoid dermatitis
dermatitis
early-onset autosomal dominant Alzheimer disease
genetic developmental and epileptic encephalopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATP-binding cassette sub-family A member 2
Probable lipid transporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis (Probable) (PubMed:15238223, PubMed:21810484, PubMed:24201375). May alter the transbilayer distribution of ceramide in the intraluminal membrane lipid bilayer, favoring its retention in the outer leaflet that results in increased acid ceramidase activity in the late endosome/lysosome, facilitating ceramide deacylation to sphingosine leading to the sequestration of free cholesterol in lysosomes (PubMed:24201375). In addition regulates amyloid-beta production either by activating a signaling pathway that regulates amyloid precursor protein transcription through the modulation of sphingolipid metabolism or through its role in gamma-secretase processing of APP (PubMed:22086926, PubMed:26510981). May play a role in myelin formation (By similarity)
ABCA2 · Q9BZC7
Mean pLDDT
70.8/ 100
Confident
2,435 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
