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Article

The effects of neurological disorder-related codon variations of ABCA13 on the function of the ABC protein.

Bioscience, biotechnology, and biochemistry - 1 Jan 2012

Tomioka Maiko, Toda Yoshinobu, Kurisu Junko, Kimura Yasuhisa, Kengaku Mineko, Ueda Kazumitsu

Abstract excerpt

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...

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Source

Identifiers

PMID: 23221702
DOI: 10.1271/bbb.120563

Genes

ABCA13
ABCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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