| Primary Identifier | MGI:96158 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 15356 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including anion binding activity; hydroxymethylglutaryl-CoA lyase activity; and metal ion binding activity. Acts upstream of or within mitochondrion organization. Located in mitochondrion. Is expressed in alimentary system; cranium; and liver. Human ortholog(s) of this gene implicated in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and amino acid metabolic disorder. Orthologous to human HMGCL (3-hydroxy-3-methylglutaryl-CoA lyase). PHENOTYPE: Mice homozygous for a knock-out allele die at midgestation exhibiting reduced embryo size, frequent cytoplasmic vacuolization in liver, heart and placenta, and marked focal hydropic swelling of mitochondria in hepatocytes. [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
