Protein Summary
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
- ENST00000333496
- ENSP00000329171
- ENSG00000188603
- ENST00000355477
- ENSP00000347660
- ENST00000357806
- ENSP00000350457
- ENST00000359984
- ENSP00000353073
- ENST00000360019
- ENSP00000353116
- ENST00000565316
- ENSP00000456117
- ENST00000569030
- ENSP00000454680
- ENST00000569430
- ENSP00000454229
- ENST00000636147
- ENSP00000490105
- BTS
- BTS
- BTN1
- JNCL
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
biological process | 0.99 | ||
transcription factor perturbation | 0.97 | ||
cellular component | 0.94 | ||
virus perturbation | 0.94 | ||
disease perturbation | 0.83 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 299.73 (req: < 5)
Gene RIFs: 76 (req: <= 3)
Antibodies: 167 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 299.73 (req: >= 5)
Gene RIFs: 76 (req: > 3)
Antibodies: 167 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 30
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0