| 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 7.1.0) Predicted to enable SNAP receptor activity and syntaxin binding activity. Predicted to be involved in several processes, including autophagosome membrane docking; regulation of vesicle-mediated transport; and synaptic vesicle exocytosis. Predicted to act upstream of or within autophagy; cell projection organization; and protein transport. Located in autophagosome. Is expressed in heart; nervous system; 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
