| Primary Identifier | MGI:101939 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 15360 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables hydroxymethylglutaryl-CoA synthase activity. Predicted to be involved in acetyl-CoA metabolic process; farnesyl diphosphate biosynthetic process, mevalonate pathway; and ketone body biosynthetic process. Predicted to act upstream of or within cholesterol biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; facial bone primordium; nervous system; and reproductive system. Used to study HMG-CoA synthase 2 deficiency. Human ortholog(s) of this gene implicated in HMG-CoA synthase 2 deficiency. Orthologous to human HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2). PHENOTYPE: Mice homozygous for a null allele exhibit increased postnatal lethality, decreased weight but increased body fat mass, hepatic steatosis, and impaired ketogenesis during P0 to P14 growth, with no increase in ketone levels. [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
