| Primary Identifier | MGI:1913364 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 66114 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in brain development and regulation of mitochondrial ATP synthesis coupled proton transport. Located in mitochondrion. Is expressed in several structures, including brain; genitourinary system; gut gland; respiratory system; and skeletal muscle tissue. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Orthologous to human DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body and brain weight, abnormal mitochondrial morphology and function, altered neocortical pyramidal neuron morphology and physiology, hypersociability and anxiety-like behaviors. [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
