Mitochondrial fatty acid oxidation disorders (WP5123)

Fatty Acids (FAs) consists of several chain lengths (short, medium and long chain), which all need to be converted to CoA-bound esters to cross the inner mitochondrial membrane. The long-chain lengths however also need additional carnitine esterification. Several diseases are linked to the proteins in this pathway, which can be categorized into four groups: 1. entry of long-chain FAs into mitochondria disorders; 2. intra-mitochondrial beta-oxidation membrane-bound proteins defects involving long-chain FAs; 3. intra-mitochondrial beta-oxidation matrix proteins defects involving short and medium-chain FAs; 4. impaired electron transfer to Oxidative phosphorylation (OXPHOS) system. This pathway has been inspired by Chapter 17 of the book of Blau (ISBN 3642403360 (978-3642403361)), edition 4 and build on top of the original [https://www.wikipathways.org/instance/WP368_r117795 'Mitochondrial long chain fatty acid beta-oxidation pathway']. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP368 CPTAC Assay Portal]

Participants

Query Drugst.One