ACAT1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ACAT1
Gene name acetyl-CoA acetyltransferase 1
Chromosome 11
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_000019.3
Associated with diseases 203750
Citation reference(s) -
Curators (0) -
Total number of public variants reported 91
Unique public DNA variants reported 81
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 93
Entrez Gene 38
PubMed articles ACAT1
OMIM - Gene 607809
OMIM - Diseases 203750 (ALPHA-METHYLACETOACETIC ACIDURIA)
HGMD ACAT1
GeneCards ACAT1
GeneTests ACAT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000392 11 acetyl-CoA acetyltransferase 1 NM_000019.3 NP_000010.1 91


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium