Literature summary for 2.3.1.21 extracted from

Greenberg, C.R.; Dilling, L.A.; Thompson, G.R.; Seargeant, L.E.; Haworth, J.C.; Phillips, S.; Chan, A.; Vallance, H.D.; Waters, P.J.; Sinclair, G.; Lillquist, Y.; Wanders, R.J.; Olpin, S.E.
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations (2009), Mol. Genet. Metab., 96, 201-207.

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Protein Variants

Protein Variants	Comment	Organism
F352C	naturally occuring mutation	Homo sapiens
P479L	naturally occuring mutation, reduced enzyme activity	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrial inner membrane	-	Homo sapiens	5743	-
mitochondrial outer membrane	-	Homo sapiens	5741	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
carnitine palmitoyltransferase IA	-	Homo sapiens
carnitine palmitoyltransferase II	-	Homo sapiens

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Release 2023.1 (January 2023)