Protein Summary
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
- ENST00000331222
- ENSP00000328182
- ENSG00000182372
- ENST00000519254
- ENSP00000490016
- ENST00000619400
- ENSP00000482713
- ENSG00000278220
- ENST00000635751
- ENSP00000489694
- ENST00000635970
- ENSP00000490439
- ENST00000637083
- ENSP00000490235
- ENST00000637156
- ENSP00000490458
- C8orf61
- EPMR
- C8orf61
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
biological process | 0.96 | ||
transcription factor perturbation | 0.94 | ||
disease perturbation | 0.9 | ||
virus perturbation | 0.9 | ||
kinase perturbation | 0.71 | ||
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: 63.47 (req: < 5)
Gene RIFs: 16 (req: <= 3)
Antibodies: 115 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 63.47 (req: >= 5)
Gene RIFs: 16 (req: > 3)
Antibodies: 115 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 27
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