| Primary Identifier | MGI:1913399 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 104725 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to contribute to serine C-palmitoyltransferase activity. Predicted to be involved in ceramide biosynthetic process; protein localization; and sphingosine biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be part of serine palmitoyltransferase complex. Is expressed in several structures, including aorta; brain; retina; spleen; and submandibular gland. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 90A and hereditary spastic paraplegia 90B. Orthologous to human SPTSSA (serine palmitoyltransferase small subunit A). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryo size, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete embryonic lethality by E9.5. [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
