HMGCS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol HMGCS2
Gene name 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Chromosome 1
Chromosomal band p13-p12
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_001166107.1, NM_005518.3
Associated with diseases 605911
Citation reference(s) -
Curators (0) -
Total number of public variants reported 45
Unique public DNA variants reported 39
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 5008
Entrez Gene 3158
PubMed articles HMGCS2
OMIM - Gene 600234
OMIM - Diseases 605911 (HMG-CoA synthase-2 deficiency, 605911 (3))
HGMD HMGCS2
GeneCards HMGCS2
GeneTests HMGCS2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000819 1 transcript variant 2 NM_001166107.1 NP_001159579.1 45
00000820 1 transcript variant 1 NM_005518.3 NP_005509.1 45


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

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