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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CLN8-20-RE | 20 (40 μL) | 200 μL |  |
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| CLN8-20-OR | 20 (40 μL) | 200 μL |  |
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| CLN8-20-GO | 20 (40 μL) | 200 μL |  |
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| CLN8-20-GR | 20 (40 μL) | 200 μL |  |
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| CLN8-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : CLN8
Gene Name : CLN8, transmembrane ER and ERGIC protein
Chromosome : CHR 8: 175,577,7-178,656,9
Locus : 8p23.3
Alt. Genes : SGK2
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