| Primary Identifier | MGI:107448 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 17101 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable protein kinase binding activity. Acts upstream of or within several processes, including defense response to other organism; phospholipid homeostasis; and vesicle organization. Located in cytosol. Is expressed in axial skeleton. Used to study Chediak-Higashi syndrome; exfoliation syndrome; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Chediak-Higashi syndrome. Orthologous to human LYST (lysosomal trafficking regulator). PHENOTYPE: Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells. [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
