LIPT1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol LIPT1
Gene name lipoyltransferase 1
Chromosome 2
Chromosomal band q11.2
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001204830.1, NM_015929.3, NM_145197.2, NM_145198.2, NM_145199.2, NR_037935.1, NR_037936.1
Associated with diseases LS
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 15, 2013
Links to other resources
HGNC 29569
Entrez Gene 51601
PubMed articles LIPT1
OMIM - Gene 610284
OMIM - Diseases LS (Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3))
HGMD LIPT1
GeneCards LIPT1
GeneTests LIPT1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00002160 2 transcript variant 2 NR_037936.1 - 0
00002161 2 transcript variant 3 NM_145197.2 NP_660198.1 0
00002162 2 transcript variant 4 NM_145198.2 NP_660199.1 0
00002163 2 transcript variant 1 NM_015929.3 NP_057013.1 0
00002164 2 transcript variant 5 NM_145199.2 NP_660200.1 0
00002165 2 transcript variant 7 NR_037935.1 - 0
00002166 2 transcript variant 6 NM_001204830.1 NP_001191759.1 0


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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