LP208430-1
CLN8 gene
Active
Description
The CLN8 gene (ceroid-lipofuscinosis, neuronal 8) [HGNC Gene ID:2079] is located on chromosome 8p23. 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 cycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), 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 2008] [NCBI Gene ID:2055] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- CLN8 gene
- Part Display Name
- CLN8 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- CLN8
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CLN8 基因 Synonyms: C8orf61; |
| es-ES | Spanish (Spain) | Gen CLN8 |
| it-IT | Italian (Italy) | CLN8, gene Synonyms: Gene CLN8 |
| nl-NL | Dutch (Netherlands) | CLN8-gen Synonyms: CLN8 gen |
| fr-FR | French (France) | CLN8 gène |
| pl-PL | Polish (Poland) | CLN8 gen Synonyms: Gen CLN8 |
| el-GR | Greek (Greece) | Γονίδιο CLN8 Synonyms: Γονίδιο CLN8 |
LOINC Copyright
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