| Primary Identifier | MGI:2159324 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 76524 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable lysophosphatidic acid binding activity; protein homodimerization activity; and sulfatide binding activity. Acts upstream of or within several processes, including locomotion involved in locomotory behavior; lysosome organization; and visual perception. Predicted to be located in several cellular components, including early endosome; endoplasmic reticulum lumen; and membrane raft. Predicted to be active in endoplasmic reticulum and membrane. Is expressed in several structures, including central nervous system and retina. Used to study neuronal ceroid lipofuscinosis 6A. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis 6A; and neuronal ceroid lipofuscinosis 6B. Orthologous to human CLN6 (CLN6 transmembrane ER protein). PHENOTYPE: Homozygous mutants have progressive retinal atrophy, limb paralysis, and seizures that lead to early death. [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
