MICU1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol MICU1
Gene name mitochondrial calcium uptake 1
Chromosome 10
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_033179.1
Transcript reference NM_006077.3
Exon/intron information NM_006077.3 exon/intron table
Associated with diseases ID, MPXPS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 40
Unique public DNA variants reported 21
Individuals with public variants 29
Hidden variants 0
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
The link between MICU1 and disease could be established when (pre-publication) Marjolein Kriek reported MICU1 variants using LOVD's VIP option, asking others to contact her when similar variant/phenotype associations were observed. The request was successful and lead to the definite association as published by Logan et al. (2014).
Date created January 23, 2013
Date last updated August 06, 2020
Version MICU1:200806

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006077.3.
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 http://www.LOVD.nl/MICU1
HGNC 1530
Entrez Gene 10367
PubMed articles MICU1
OMIM - Gene 605084
OMIM - Diseases MPXPS (myopathy, with extrapyramidal signs (MPXPS))
GeneCards MICU1
GeneTests MICU1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001808 10 transcript variant 1 NM_006077.3 NP_006068.2 40

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 © 2013-2020. 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.