HADHA gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol HADHA
Gene name hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
Chromosome 2
Chromosomal band p23
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_000182.4, XM_005264275.1, XM_005264276.1
Associated with diseases 609015, LCHAD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 130
Unique public DNA variants reported 123
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 4801
Entrez Gene 3030
PubMed articles HADHA
OMIM - Gene 600890
OMIM - Diseases 609015 (TRIFUNCTIONAL PROTEIN DEFICIENCY)
LCHAD (LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY)
HGMD HADHA
GeneCards HADHA
GeneTests HADHA


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000786 2 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit NM_000182.4 NP_000173.2 130
00000787 2 transcript variant X1 XM_005264275.1 XP_005264332.1 130
00000788 2 transcript variant X2 XM_005264276.1 XP_005264333.1 130


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; 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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