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Ontology Browser

Term:
trifunctional protein deficiency pathway (PW:0001627)
Annotations: Rat: (14) Mouse: (14) Human: (14) Chinchilla: (14) Bonobo: (14) Dog: (14) Squirrel: (14) Pig: (14)
Parent Terms Term With Siblings Child Terms
carnitine palmitoyltransferase I deficiency pathway  
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis pathway  
cholesterol ester storage disease pathway +   
desmosterolosis pathway  
familial lipoprotein lipase deficiency pathway  
medium chain acyl-CoA dehydrogenase deficiency pathway  
short-chain acyl-CoA dehydrogenase deficiency pathway  
Smith-Lemli-Opitz Syndrome pathway  
sphingolipidosis pathway +   
trifunctional protein deficiency pathway  
Trifunctional protein deficiency is caused by alteration in the fatty acid beta degradation pathway. Specifically, mutations in the alpha and beta subunits of the mitochondrial enzyme that catalyzes the last three steps, have been linked to this inherited metabolic condition.
very long-chain acyl-CoA dehydrogenase deficiency pathway  

Synonyms
Related Synonyms: SMP:00545
Definition Sources: OMIM:609015

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