HMGCL gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol HMGCL
Gene name 3-hydroxymethyl-3-methylglutaryl-CoA lyase
Chromosome 1
Chromosomal band p36.1-p35
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_000191.2, NM_001166059.1, XM_005245857.1, XM_005245858.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
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
Links to other resources
HGNC 5005
Entrez Gene 3155
PubMed articles HMGCL
OMIM - Gene 613898
HGMD HMGCL
GeneCards HMGCL
GeneTests HMGCL


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000815 1 transcript variant X1 XM_005245857.1 XP_005245914.1 0
00000816 1 transcript variant 2 NM_001166059.1 NP_001159531.1 0
00000817 1 transcript variant 1 NM_000191.2 NP_000182.2 0
00000818 1 transcript variant X2 XM_005245858.1 XP_005245915.1 0


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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