Primary Identifier | MGI:1350925 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 27054 |
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. Predicted to be involved in COPII-coated vesicle cargo loading. Located in perinuclear region of cytoplasm. Human ortholog(s) of this gene implicated in Cowden syndrome 7 and congenital dyserythropoietic anemia type II. Orthologous to human SEC23B (SEC23 homolog B, COPII coat complex component). PHENOTYPE: Mice homozygous for a null mutation display complete neonatal lethality, fail to suckle, and show degeneration of the secretory tissues in the pancreas, salivary gland, and gastric glands. [provided by MGI curators] |