The MICU1 gene homepage

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_001195518.1, NM_001195519.1, NM_006077.3, XM_005269383.1, XM_005269384.1, XM_005269386.1, XM_005269387.2
Associated with diseases ID, MPXPS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 68
Unique public DNA variants reported 7
Individuals with public variants 34
Hidden variants 102
Date created November 30, -0001
Date last updated September 28, 2016
Version MICU1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:1530
Entrez Gene 10367
PubMed articles MICU1
OMIM - Gene 605084
OMIM - Diseases MPXPS (myopathy, with extrapyramidal signs (MPXPS))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012757 10 transcript variant 2 NM_001195518.1 NP_001182447.1 64
00012758 10 transcript variant 1 NM_006077.3 NP_006068.2 64
00012759 10 transcript variant 3 NM_001195519.1 NP_001182448.1 32
00033340 10 transcript variant X1 XM_005269383.1 XP_005269440.1 -
00033341 10 transcript variant X4 XM_005269386.1 XP_005269443.1 -
00033342 10 transcript variant X2 XM_005269384.1 XP_005269441.1 -
00033343 10 transcript variant X5 XM_005269387.2 XP_005269444.1 -