MICU1 Chromosome 10
Mitochondrial calcium uptake 1
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What This Gene Does
This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
Gene Info
Gene Group
"EF-hand domain containing|MCU complex subunits"
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000107745
Associated Conditions (5)
Inborn genetic diseases
Proximal myopathy with extrapyramidal signs
Abnormality of the nervous system
Neurodevelopmental disorder
MICU1-related disorder
Key Variants
RS1373235194
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS747832014
Conflicting classifications of pathogenicity
Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
Health Risk
RS777327250
Conflicting classifications of pathogenicity
Proximal myopathy with extrapyramidal signs, Abnormality of the nervous system, Proximal myopathy with extrapyramidal signs
Health Risk
RS1554882874
Likely pathogenic
Health Risk
RS1839553121
Likely pathogenic
Health Risk
RS1866073268
Likely pathogenic
Health Risk
RS2132103556
Likely pathogenic
Health Risk
RS2495370637
Likely pathogenic
Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
Health Risk
RS2495687763
Likely pathogenic
Health Risk
RS375775506
Likely pathogenic
Health Risk
RS764467399
Likely pathogenic
Health Risk
RS770541783
Likely pathogenic
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1373235194 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747832014 | Health Risk | Conflicting classifications of pathogenicity | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS777327250 | Health Risk | Conflicting classifications of pathogenicity | Proximal myopathy with extrapyramidal signs, Abnormality of the nervous system, Proximal myopathy with extrapyramidal signs |
| RS1554882874 | Health Risk | Likely pathogenic | — |
| RS1839553121 | Health Risk | Likely pathogenic | — |
| RS1866073268 | Health Risk | Likely pathogenic | — |
| RS2132103556 | Health Risk | Likely pathogenic | — |
| RS2495370637 | Health Risk | Likely pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS2495687763 | Health Risk | Likely pathogenic | — |
| RS375775506 | Health Risk | Likely pathogenic | — |
| RS764467399 | Health Risk | Likely pathogenic | — |
| RS770541783 | Health Risk | Likely pathogenic | — |
| RS1135401814 | Health Risk | Pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS1319785257 | Health Risk | Pathogenic | — |
| RS1366397948 | Health Risk | Pathogenic | — |
| RS1840335901 | Health Risk | Pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS2132347847 | Health Risk | Pathogenic | — |
| RS2132443966 | Health Risk | Pathogenic | — |
| RS2132444081 | Health Risk | Pathogenic | — |
| RS2495369149 | Health Risk | Pathogenic | — |
| RS2495369415 | Health Risk | Pathogenic | — |
| RS2495642790 | Health Risk | Pathogenic | — |
| RS2495643520 | Health Risk | Pathogenic | — |
| RS2495686925 | Health Risk | Pathogenic | — |
| RS369069489 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS538329212 | Health Risk | Pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS746453954 | Health Risk | Pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS753078041 | Health Risk | Pathogenic | — |
| RS754639936 | Health Risk | Pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS763449647 | Health Risk | Pathogenic | — |
| RS868338421 | Health Risk | Pathogenic | — |
| RS1840027040 | Health Risk | Pathogenic/Likely pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS369915689 | Health Risk | Pathogenic/Likely pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS375502236 | Health Risk | Pathogenic/Likely pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS375664373 | Health Risk | Pathogenic/Likely pathogenic | Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs |
| RS749124658 | Health Risk | Pathogenic/Likely pathogenic | Proximal myopathy with extrapyramidal signs, Inborn genetic diseases, Neurodevelopmental disorder |
| RS755651388 | Health Risk | Pathogenic/Likely pathogenic | MICU1-related disorder, Proximal myopathy with extrapyramidal signs, MICU1-related disorder |