ATP Binding Cassette Transporter A1 (ABCA1)

ABCA1 was discovered as the mutation causing Tangier"""s Disease by several groups in 1998. Gerd Schmitz"""s group in Germany and Michael Hayden"""s group in British Columbia were using standard genetics techniques and DNA from family pedigrees to locate the mutation.Richard Lawn"""s group at CV Therapeutics in Palo Alto, CA used cDNA microarrays, which were relatively new at the time, to assess gene expression profiles from cell lines created from normal and effected individuals. They showed cell lines from patients with Tangier"""s disease showed differential regulation of the ABCA1 gene. Subsequent sequencing of the gene identified the mutations. This group received an award from the American Heart Association for their discovery.