MCU
mitochondrial calcium uniporter
Summary
Enables calcium channel activity; identical protein binding activity; and uniporter activity. Involved in several processes, including cellular response to calcium ion starvation; positive regulation of mitochondrial calcium ion concentration; and positive regulation of mitochondrial fission. Located in mitochondrion. Part of uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745829005 | 10:74,451,931 | T/A | — | uncertain significance |
| rs745625145 | 10:74,451,976 | G/A | — | uncertain significance |
| rs887998863 | 10:74,451,988 | G/A | — | uncertain significance |
| rs1181460839 | 10:74,452,016 | G/C | — | uncertain significance |
| rs12767696 | 10:74,464,463 | T/C | regulatory region variant | — |
| rs6480641 | 10:74,530,338 | A/C | downstream gene variant | — |
| rs2492398948 | 10:74,594,139 | G/C | — | uncertain significance |
| rs780415370 | 10:74,594,180 | T/C | — | uncertain significance |
| rs146047894 | 10:74,620,271 | G/A | — | uncertain significance |
| rs11000430 | 10:74,630,138 | G/C | — | — |
| rs11000431 | 10:74,630,336 | A/C | — | — |
| rs2492485722 | 10:74,631,153 | A/G | — | uncertain significance |
| rs760003771 | 10:74,631,198 | G/A | — | uncertain significance |
| rs755773326 | 10:74,631,232 | G/A | — | uncertain significance |
| rs10823949 | 10:74,632,924 | C/T | intron variant | — |
| rs374910594 | 10:74,645,558 | G/A | — | uncertain significance |
| rs766307644 | 10:74,645,575 | G/A | — | uncertain significance |
| rs142030206 | 10:74,645,578 | T/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.