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Article

Screening for functional sequence variations and mutations in ABCA1.

Atherosclerosis - 1 Aug 2004

Probst Mario C O, Thumann Harald, Aslanidis Charalampos, Langmann Thomas, Buechler Christa, Patsch Wolfgang, Baralle Francisco E, Dallinga-Thie Geesje M, Geisel Jürgen, Keller Christiane, Menys Valentine C, Schmitz Gerd

Abstract excerpt

Mutations in the ATP-binding cassette 1 transporter gene (ABCA1) are responsible for the genetic HDL-deficiency syndromes, which are characterized by severely diminished plasma HDL-C levels and a predisposition to cardiovascular disease and splenomegaly. The ABCA1 gene contains 50 exons and codes for a 2261-amino acid long membrane protein that facilitates phospholipid and cholesterol transport. Several mutations...

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Share to ATP Binding Cassette Transporter 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15262183
DOI: 10.1016/j.atherosclerosis.2004.02.019

Genes

ABCA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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