| Primary Identifier | MGI:2681008 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 545975 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process and cornification. Acts upstream of or within sphingolipid biosynthetic process. Located in endoplasmic reticulum. Is expressed in epidermis; epidermis granular layer; epidermis spinous layer; face skin; and skin. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 9. Orthologous to human CERS3 (ceramide synthase 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lethal skin barrier disruption defect due to a lack of ultra-long-chain acyl ceramides, impaired stratum corneum desquamation, accelerated lamellar body biogenesis and extrusion, and delayed keratinocyte cornification. [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
