| Protein Name | CLN8 transmembrane ER and ERGIC protein |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2055 |
| Gene Symbol | CLN8 |
| UniProt | Q9UBY8 (CLN8_HUMAN), A0A024QZ57 (A0A024QZ57_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
14
Total Number of Articles : 13 |
Description |
CLN8 transmembrane ER and ERGIC protein |
| Gene Summary |
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] |
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| Properties | |