Mitochondrial fatty acid oxidation disorders (Homo sapiens)

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ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none saturatedmitochondrial matrixLong-chainFA transportersAcyl-CoA dehydrogenases:Carnitine palmitoyl-transferase IdeficiencyPlasma MembraneunsaturatedSCP2CPT2Long chain Acyl-CoACarnitine3-Ketoacyl-CoAEHHADHDCIcis-D3-Enoyl-CoALong chain Acyl-CoACPT1ALong chain acyl-carnitineLong chain acyl-carnitineAcetyl-CoASLC25A203-L-Hydroxyacyl-CoALong Chain Fatty Acidtrans-D2-Enoyl-CoAAcyl-CoA (n-2)PECR2,4 Dienoyl-CoAACADSACADLACADMACADVLHADHAHADHSCACSL4ACSL1ACSL2ACSL3Carnitine transporterCarnitineLong Chain Fatty AcidOuter mitochondrial membraneInner mitochondrial membraneName: Mitochondrial fatty acid oxidation disordersOrganism: Homo sapiens


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

Image:Wplogo_31.pngCommunity: Inborn Errors of Metabolism (IEM)
Image:MissingXref.pngAnnotate nodes
Image:NeedsWork.pngNeeds work
Image:Curated.pngReview changes for Approved

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. Rinaldo P, Matern D, Bennett MJ; ''Fatty acid oxidation disorders.''; Annu Rev Physiol, 2002 PubMed Europe PMC Scholia
  3. 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

History

View all...
CompareRevisionActionTimeUserComment
137660
Approved
view19:56, 6 March 2025KhanspersModified description
135973
IEM
view14:04, 5 December 2024DeSlRemoved unconnected line
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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
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)
SLC25A20GeneProduct788 (Entrez Gene) AKA CACT
cis-D3-Enoyl-CoAMetabolite
trans-D2-Enoyl-CoAMetaboliteCHEBI:10723 (ChEBI)

Annotated Interactions

No annotated interactions

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