title: The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein.
abstract: Rare coding variants of ATP-binding cassette protein A13 (ABCA13) contribute to the risk of neurological disorders, but little is known about the physiological function of ABCA13 and how single nucleotide polymorphisms (SNPs) affect it. Here, we examined the effects of neurological disorder-related SNPs ABCA13, T4031A and R4843C in the context of ABCA1, and found that the former SNP (T1088A in ABCA1) severely impaired the ABCA1 functions of apolipoprotein A-I (apoA-I) binding and cholesterol efflux. The antibody against mouse ABCA13 reacted with neurons in the cerebral cortex, hippocampus, and cerebellum. These results suggest that the T4031A replacement affects the function of ABCA13 in the brain.
authors.affiliation: Institute for Integrated Cell-Material Sciences (iCeMS), Kyoto University, Kyoto, Japan.
authors.forename: Maiko
authors.initials: M
authors.lastname: Tomioka
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Toda
authors.forename: Junko
authors.initials: J
authors.lastname: Kurisu
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Kimura
authors.forename: Mineko
authors.initials: M
authors.lastname: Kengaku
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Ueda
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D000595:Amino Acid Sequence; D000818:Animals; D016632:Apolipoprotein A-I / Q000378:metabolism; D002462:Cell Membrane / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D003062:Codon / Q000235:genetics*; D005786:Gene Expression Regulation; D057809:HEK293 Cells; D006801:Humans; D051379:Mice; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*; D009711:Nucleotides / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary
chemical_list: D018528:ATP-Binding Cassette Transporters; C474964:Abca13 protein, mouse; D016632:Apolipoprotein A-I; D003062:Codon; D009711:Nucleotides; D002784:Cholesterol