| Primary Identifier | MGI:1097711 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 13244 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables retinol isomerase activity and sphingolipid delta-4 desaturase activity. Acts upstream of or within ceramide biosynthetic process and positive regulation of apoptotic process. Predicted to be located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 18. Orthologous to human DEGS1 (delta 4-desaturase, sphingolipid 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased to absent ceramide levels, decreased body weight, scaly skin, sparse hair, tremors, hematological and blood chemistry abnormalities, decreased bone mineral content and density and decreased liver function. [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
