ABCA2

ABCA2 is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN2

Full Name

ATP Binding Cassette Subfamily A Member 2

Function

Probable lipid tranporter that modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis. 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. 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. May play a role in myelin formation (By similarity).

Biological Process

Cellular sphingolipid homeostasis
Central nervous system myelin formation
Ceramide translocation
Cholesterol homeostasis
Ganglioside metabolic process
Glycosphingolipid metabolic process
Lipid metabolic process
Lipid transport
Locomotory behavior
Negative regulation of cholesterol efflux
Negative regulation of cholesterol esterification
Negative regulation of intracellular cholesterol transport
Negative regulation of low-density lipoprotein receptor activity
Negative regulation of phospholipid biosynthetic process
Negative regulation of receptor-mediated endocytosis involved in cholesterol transport
Negative regulation of sphingolipid biosynthetic process
Positive regulation of amyloid-beta formation
Positive regulation of amyloid precursor protein biosynthetic process
Positive regulation of amyloid precursor protein catabolic process
Positive regulation of low-density lipoprotein particle receptor catabolic process
Regulation of cholesterol esterification
Regulation of intracellular cholesterol transport
Regulation of post-translational protein modification
Regulation of protein glycosylation
Regulation of protein localization to cell periphery
Regulation of protein localization to cell surface
Regulation of transcription by RNA polymerase II
Response to cholesterol
Response to drug
Response to steroid hormone
Sphingomyelin metabolic process
Sphingosine biosynthetic process
Transmembrane transport
Transport across blood-brain barrier

Cellular Location

Endosome membrane; Lysosome membrane. Forms discrete, punctate intracellular vesicles.

Involvement in disease

An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures.

PTM

Methylated at Gln-271 by N6AMT1.