LIAS gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol LIAS
Gene name lipoic acid synthetase
Chromosome 4
Chromosomal band p14
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_001278590.1, NM_001278591.1, NM_001278592.1, NM_006859.3, NM_194451.2
Associated with diseases PDHLD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 50
Unique public DNA variants reported 49
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 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 16429
Entrez Gene 11019
PubMed articles LIAS
OMIM - Gene 607031
OMIM - Diseases PDHLD (PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY)
HGMD LIAS
GeneCards LIAS
GeneTests LIAS


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000163 4 transcript variant 1 NM_006859.3 NP_006850.2 50
00000164 4 transcript variant 2 NM_194451.2 NP_919433.1 50
00000165 4 transcript variant 3 NM_001278590.1 NP_001265519.1 50
00000166 4 transcript variant 4 NM_001278591.1 NP_001265520.1 42
00000167 4 transcript variant 5 NM_001278592.1 NP_001265521.1 42


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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