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 95
Unique public DNA variants reported 85
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 95


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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