| Primary Identifier | MGI:2384909 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 216001 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables calcium ion binding activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion and positive regulation of cristae formation. Located in mitochondrial intermembrane space. Part of calcium channel complex. Is active in mitochondrial inner membrane. Is expressed in several structures, including genitourinary system; liver; nervous system; parathyroid gland; and respiratory system. Human ortholog(s) of this gene implicated in myopathy with extrapyramidal signs. Orthologous to human MICU1 (mitochondrial calcium uptake 1). PHENOTYPE: Mice homozygous for a null allele exhibit impaired mitochondrial calcium uptake, postnatal lethality, reduced body size, ataxia, underdeveloped cerebellum, reduced muscle strength, increased reactive oxygen species, and reduced B cell numbers. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
