Mitochondrial fatty acid oxidation disorders (Homo sapiens)

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Plasma Membranemitochondrial matrixCarnitine palmitoyl-transferase IdeficiencyAcyl-CoA dehydrogenases:Long-chainFA transporterssaturatedunsaturatedSLC22A5Long chain acyl-carnitineACSL3EHHADHHADHAACSL2HADHSCACADSAcyl-CoA (n-2)ACSL1Long chain Acyl-CoADCILong chain acyl-carnitineACADVLcis-D3-Enoyl-CoACPT1AACADLLong Chain Fatty Acid2,4 Dienoyl-CoASLC25A20Acetyl-CoACarnitine3-Ketoacyl-CoAtrans-D2-Enoyl-CoAPECRCPT2ACSL43-L-Hydroxyacyl-CoASCP2Long chain Acyl-CoAACADMCarnitine transporterCarnitineLong Chain Fatty AcidOuter mitochondrial membraneInner mitochondrial membraneCarnitine transporterdeficiency


Description

Fatty Acids (FAs) consists out 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 additonal carnitine esterification.

Several diseases are linked to the proteins in this pathway, which are categorised into four groups: 1. entry of long-chain FAs into mitochondria disroders; 2. intramitochondrial beta-oxidation membrane-bound proteins defects involving long-chain FAs; 3. intramitochondrial beta-oxidation matrix proteins defects involving short and medium-chain FAs; 4. impared electron tranfer to 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 'Mitochondrial long chain fatty acid beta-oxidation pathway'.

Proteins on this pathway have targeted assays available via the CPTAC Assay Portal

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Quality Tags

Ontology Terms

 

Bibliography

  1. Blau, N., Duran, M., Gibson, K.M., Donisi-Vici, C.; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Chapter 17''; ISBN 978-3-642-40337-8, 2014 PubMed Europe PMC Scholia
  2. Xia C, Fu Z, Battaile KP, Kim JP; ''Crystal structure of human mitochondrial trifunctional protein, a fatty acid β-oxidation metabolon.''; Proc Natl Acad Sci U S A, 2019 PubMed Europe PMC Scholia
  3. Rinaldo P, Matern D, Bennett MJ; ''Fatty acid oxidation disorders.''; Annu Rev Physiol, 2002 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134493view05:27, 22 July 2024EgonwRemoved a template comment
128205view02:13, 29 January 2024EweitzUse standard rectangle for metabolites, standardize case
128204view02:10, 29 January 2024EweitzUse rounded rectangle disease node shapes, mitigate overlap, standardize case
126872view19:40, 28 June 2023KhanspersMinor update
126633view20:22, 7 June 2023KhanspersModified description
126460view19:08, 1 May 2023AlexanderPicofixed citations
126200view13:59, 14 April 2023Ash iyerUpdated omim identifier.
126126view09:16, 11 April 2023Ash iyerModified description
126112view14:00, 7 April 2023EgonwReplaced a CAS number of an enzyme with a ChEBI identifier of the compound
119439view09:35, 29 June 2021DeSlAdded some more diseases; details on mTFP
119421view13:52, 28 June 2021DeSlAdded another disease and FA details
119420view13:38, 28 June 2021DeSlAdded another disease + location of CPT2
119419view13:30, 28 June 2021DeSlAdded short chain FA translocation to inner mitochondrial membrane
119418view13:20, 28 June 2021DeSlAdded more specific IDs for long chain FAs
119417view13:11, 28 June 2021DeSlAdded another ref and disease
119408view12:22, 27 June 2021DeSlAdded general publication
119407view12:20, 27 June 2021DeSlAdded carnitine transport protein + related disease
119406view12:15, 27 June 2021DeSlOntology Term : 'carnitine-acylcarnitine translocase deficiency' added !
119405view12:15, 27 June 2021DeSlOntology Term : 'carnitine-acylcarnitine translocase deficiency' added !
119404view12:15, 27 June 2021DeSlOntology Term : 'carnitine palmitoyltransferase II deficiency' added !
119403view12:15, 27 June 2021DeSlOntology Term : 'carnitine palmitoyltransferase I deficiency pathway' added !
119402view12:14, 27 June 2021DeSlOntology Term : 'carnitine palmitoyltransferase I deficiency' added !
119401view12:13, 27 June 2021DeSlNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
2,4 Dienoyl-CoAMetaboliteType your comment here
3-Ketoacyl-CoAMetaboliteCHEBI:57347 (ChEBI)
3-L-Hydroxyacyl-CoAMetabolite
ACADLGeneProduct33 (Entrez Gene)
ACADMGeneProduct34 (Entrez Gene)
ACADSGeneProduct35 (Entrez Gene)
ACADVLGeneProduct37 (Entrez Gene)
ACSL1GeneProduct2180 (Entrez Gene)
ACSL2GeneProduct80221 (Entrez Gene)
ACSL3GeneProduct2181 (Entrez Gene)
ACSL4GeneProduct2182 (Entrez Gene)
Acetyl-CoAMetabolite72-89-9 (CAS)
Acyl-CoA (n-2)Metabolite9029-97-4 (CAS)
CPT1AGeneProduct1374 (Entrez Gene)
CPT2GeneProduct1376 (Entrez Gene)
CarnitineMetaboliteCHEBI:3424 (ChEBI)
DCIGeneProduct1632 (Entrez Gene)
EHHADHGeneProduct1962 (Entrez Gene)
HADHAGeneProduct3030 (Entrez Gene) similiar to: ECHA RAT
HADHSCGeneProduct3033 (Entrez Gene)
Long Chain Fatty AcidMetaboliteCHEBI:15904 (ChEBI)
Long chain Acyl-CoAMetabolite
Long chain Acyl-CoAMetaboliteCHEBI:83139 (ChEBI)
Long chain acyl-carnitineMetabolite
PECRGeneProduct55825 (Entrez Gene)
SCP2GeneProduct6342 (Entrez Gene)
SLC22A5GeneProductO76082 (Uniprot-TrEMBL) AKA OCTN2
SLC25A20GeneProduct788 (Entrez Gene) AKA CACT
cis-D3-Enoyl-CoAMetabolite
trans-D2-Enoyl-CoAMetaboliteCHEBI:10723 (ChEBI)

Annotated Interactions

No annotated interactions

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