CLN8
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Sinónimos:
C8orf61, EPMR
Especie:
Human CLN8 (2055), Mouse Cln8 (26889), Rat Cln8 (306619), chicken CLN8 (421902), Zebrafish cln8 (100136870), naked mole-rat Cln8 (101702192), domestic guinea pig Cln8 (100717237), sheep CLN8 (101104038), cow CLN8 (530874), domestic cat CLN8 (101100714)
ID UniProtKB:
ID del gen:
- Human(2055) 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 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]
- Mouse(26889) ceroid-lipofuscinosis, neuronal 8
- Rat(306619) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- chicken(421902) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- Zebrafish(100136870) ceroid-lipofuscinosis, neuronal 8
- naked mole-rat(101702192) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- domestic guinea pig(100717237) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- sheep(101104038) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- cow(530874) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- domestic cat(101100714) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
- dog(488558) ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
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