Primary Identifier | MGI:107370 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 20911 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables syntaxin-1 binding activity and syntaxin-3 binding activity. Acts upstream of or within cellular response to type II interferon and exocytosis. Located in apical plasma membrane; phagocytic vesicle; and zymogen granule membrane. Is expressed in several structures, including brain; gut; respiratory system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 5. Orthologous to human STXBP2 (syntaxin binding protein 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. [provided by MGI curators] |