TMEM126A gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol TMEM126A
Gene name transmembrane protein 126A
Chromosome 11
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NG_017157.1
Transcript reference NM_032273.3
Associated with diseases OPA, OPA-7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Andreas Laner and Theresa Neuhann
Total number of public variants reported 25
Unique public DNA variants reported 16
Individuals with public variants 5
Hidden variants 0
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 07, 2011
Date last updated July 01, 2020
Version TMEM126A:200701

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
Homepage URL
External URL Orphanet
HGNC 25382
Entrez Gene 84233
PubMed articles TMEM126A
OMIM - Gene 612988
OMIM - Diseases OPA-7 (atrophy, optic, type 7, with/without auditory neuropathy (OPA-7))

Active transcripts




NCBI ID     

NCBI Protein ID     

00021362 11 transmembrane protein 126A NM_032273.3 NP_115649.1 25

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.