TMEM126B gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol TMEM126B
Gene name transmembrane protein 126B
Chromosome 11
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_001193537.2, NM_001193538.2, NM_001256546.1, NM_001256547.1, NM_018480.4
Associated with diseases 252010, 618250
Citation reference(s) -
Curators (0) -
Total number of public variants reported 4
Unique public DNA variants reported 4
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 30883
Entrez Gene 55863
PubMed articles TMEM126B
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618250 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29)
HGMD TMEM126B
GeneCards TMEM126B
GeneTests TMEM126B


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001216 11 transcript variant 2 NM_001193537.2 NP_001180466.1 4
00001217 11 transcript variant 5 NM_001256546.1 NP_001243475.1 4
00001218 11 transcript variant 3 NM_001193538.2 NP_001180467.1 4
00001219 11 transcript variant 1 NM_018480.4 NP_060950.3 4
00001220 11 transcript variant 4 NM_001256547.1 NP_001243476.1 4


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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