• Source: CLN6

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.
The CLN6 protein is part of the EGRESS complex (ER-to-Golgi relaying of enzymes of the lysosomal system), which recruits lysosomal enzymes at the endoplasmic reticulum to promote their transfer to the Golgi complex. The EGRESS complex is composed of CLN6 and CLN8 proteins. Loss-of-function mutations in CLN6 result in inefficient export of lysosomal enzymes from the endoplasmic reticulum and diminished levels of the enzymes at the lysosome.




See also


Batten disease




References






Further reading






External links


GeneReviews/NIH/NCBI/UW entry on Neuronal Ceroid-Lipofuscinoses
Human CLN6 genome location and CLN6 gene details page in the UCSC Genome Browser.

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/1
• CLN6
• Lysosome
• Neuronal ceroid lipofuscinosis
• CLN
• Batten disease
• Kufs disease
• Lysosomal storage disease
• List of human protein-coding genes 1
• Jansky–Bielschowsky disease
• CLN8