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 7.1.0) Enables calcium ion binding activity and protein heterodimerization activity. Predicted to be involved in several processes, including calcium ion transport; positive regulation of mitochondrial calcium ion concentration; and regulation of cellular hyperosmotic salinity response. Predicted to act upstream of or within calcium ion transport. Located in mitochondrion. Part of calcium channel complex. 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] |