• Source: CLN8

Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.




Molecular biology


This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum (ER) and recycles between the ER and the Golgi apparatus via COPII- and COPI-coated vesicles. CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER. CLN8 proteins pair with CLN6 proteins to form the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), the functional unit responsible for the export of lysosomal enzymes from the endoplasmic reticulum.




Clinical


Mutations in this gene are associated with progressive epilepsy with mental retardation (EPMR), a subtype of neuronal ceroid lipofuscinosis (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.




References






Further reading






External links


GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
Human CLN8 genome location and CLN8 gene details page in the UCSC Genome Browser.

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• CLN8
• Lysosome
• Northern epilepsy syndrome
• Lysosomal storage disease
• CLN
• Neuronal ceroid lipofuscinosis
• Batten disease
• Finnish heritage disease
• Chromosome 8
• List of human protein-coding genes 1