| Primary Identifier | MGI:1349635 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 20334 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTPase activator activity and zinc ion binding activity. Involved in protein localization to plasma membrane. Located in COPII-coated ER to Golgi transport vesicle; Golgi membrane; and perinuclear region of cytoplasm. Is expressed in central nervous system; craniocervical region bone; retina; and thoracic segment skeleton. Human ortholog(s) of this gene implicated in craniolenticulosutural dysplasia. Orthologous to human SEC23A (SEC23 homolog A, COPII coat complex component). PHENOTYPE: Mice homozygous for a knock-out allele die during mid-embryogenesis exhibiting defects in neural tube closure and extraembryonic membrane formation as well as broad secretion defects of multiple collagen species in different tissues. [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
