Literature summary for 2.3.1.9 extracted from

Fukao, T.; Boneh, A.; Aoki, Y.; Kondo, N.
A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene (2008), Mol. Genet. Metab., 94, 417-421.

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Protein Variants

Protein Variants	Comment	Organism
additional information	a single-base substitution (c.1124A>G) activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
acetoacetyl-CoA thiolase	-	Homo sapiens

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Release 2023.1 (January 2023)