| Primary Identifier | MGI:3617850 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 433091 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables omega-hydroxyceramide transacylase activity. A structural constituent of skin epidermis. Involved in establishment of skin barrier; keratinocyte differentiation; and omega-hydroxyceramide biosynthetic process. Predicted to be active in cytoplasm; lipid droplet; and membrane. Is expressed in gut; heart; liver; skin; and spleen. Used to study autosomal recessive congenital ichthyosis 10. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 10. Orthologous to human PNPLA1 (patatin like phospholipase domain containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality; shiny, red, dry, wrinkled and non-elastic skin; reduced size and weight at birth; fail to suckle; and exhibit skin defects associated with a lack of omega-O-acylceramides. [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
