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ABC A-subfamily transporters: structure, function and disease.
Wolfgang E Kaminski1, Armin Piehler, Jürgen J Wenzel
1Institute for Clinical Chemistry, Faculty for Clinical Medicine Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167 Mannheim, Germany. wolfgang.kaminski@ikc.ma.uni-heidelberg.de
Biochimica Et Biophysica Acta
|March 17, 2006
Summary
The ABC A-subfamily transporters are crucial for lipid transport. Dysfunctional ABC A-transporters are linked to various genetic disorders, highlighting their importance in human health.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- ATP-binding cassette (ABC) transporters are conserved proteins facilitating substrate transport across membranes.
- A specific subgroup, ABC A-subfamily transporters, are involved in transporting physiological lipid compounds.
- Four members (ABCA1, ABCA3, ABCA4, ABCA12) are linked to monogenetic disorders like HDL deficiency and keratinization disorders.
Purpose of the Study:
- To review the current understanding of ABC A-subfamily transporters in physiology and disease.
- To explore potential links between other ABC A-transporters and Mendelian diseases.
- To highlight the significance of lipid transport in human health and disease.
Main Methods:
- Literature review of existing studies on ABC A-transporters.
- Analysis of genetic data linking ABC A-transporter dysfunction to diseases.
- Synthesis of information on the physiological roles and disease associations.
Main Results:
- ABC A-subfamily transporters play a key role in lipid metabolism and transport.
- Mutations in ABCA1, ABCA3, ABCA4, and ABCA12 are associated with distinct genetic disorders.
- The remaining eight ABC A-transporters are potential candidates for undiscovered lipid-related Mendelian diseases.
Conclusions:
- ABC A-transporters are vital for cellular lipid homeostasis.
- Dysfunction in these transporters leads to a spectrum of human diseases.
- Further research into the remaining ABC A-transporters may uncover new genetic disorders.