Creative biogene
SHARE THIS
facebook twitterlinkedingoogle plusStumbleUpon blog


  Order Info:   order info
Products
CBpromise

24x7 CUSTOMER SERVICE

CONTACT US TO ORDER

;

cln8

Bookmark and Share
Official Full Name
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Background
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.
Synonyms
CLN8; ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); C8orf61, chromosome 8 open reading frame 61 , EPMR; protein CLN8; FLJ39417; EPMR; C8orf61; ceroid-lipofuscinosis, neuronal 8; zgc:172202

CONTACT CREATIVE BIOGENE

45-1 Ramsey Road, Shirley, NY 11967, USA
Tel: 1-631-626-9181
Fax: 1-631-614-7828
Email: info@creative-biogene.com

Europe
Tel: 44-207-097-1828

Terms & Conditions | Privacy Policy | Sitemap | FAQ | © 2010-2017 Creative Biogene. All Rights Reserved.
-->