| Primary Identifier | MGI:1914724 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 67474 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable SNAP receptor activity and syntaxin binding activity. Predicted to be involved in several processes, including autophagosome maturation; regulation of vesicle-mediated transport; and synaptic vesicle exocytosis. Located in autophagosome. Is expressed in several structures, including central nervous system; dorsal root ganglion; heart; and sensory organ. Used to study CEDNIK syndrome. Human ortholog(s) of this gene implicated in CEDNIK syndrome. Orthologous to human SNAP29 (synaptosome associated protein 29). PHENOTYPE: Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress. [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
