Gene Symbol | ACAA1 |
Entrez Gene ID | 30 |
Full Name | acetyl-CoA acyltransferase 1 |
Synonyms | ACAA,PTHIO,THIO |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]. |
Disorder MIM: |