ECHS1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ECHS1
Gene name enoyl CoA hydratase, short chain, 1, mitochondrial
Chromosome 10
Chromosomal band q26.2-q26.3
Imprinted Unknown
Genomic reference NC_000010.10
Transcript reference NM_004092.3
Associated with diseases 616277
Citation reference(s) -
Curators (0) -
Total number of public variants reported 18
Unique public DNA variants reported 18
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 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 3151
Entrez Gene 1892
PubMed articles ECHS1
OMIM - Gene 602292
OMIM - Diseases 616277 (Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3))
HGMD ECHS1
GeneCards ECHS1
GeneTests ECHS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001861 10 enoyl CoA hydratase, short chain, 1, mitochondrial NM_004092.3 NP_004083.3 18


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium