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
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
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))
GeneCards TMEM126B
GeneTests TMEM126B

Active transcripts




NCBI ID     

NCBI Protein ID     

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

Copyright & disclaimer
; NuclearMitome

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium