CLN6

CLN6
Identifiers
Aliases	CLN6, CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A
External IDs	OMIM: 606725 MGI: 2159324 HomoloGene: 9898 GeneCards: CLN6
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	62,759,288 bp
RNA expression pattern
	Top expressed in
	monocyte; ; bone marrow; ; bone marrow cells; ; rectum; ; renal cortex; ; placenta; ; kidney; ; islet of Langerhans; ; blood; ; appendix;
	Top expressed in
	yolk sac; ; islet of Langerhans; ; spermatocyte; ; lip; ; seminiferous tubule; ; proximal tubule; ; corneal stroma; ; crypt of lieberkuhn of small intestine; ; placenta; ; ileum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; protein homodimerization activity;
Cellular component	integral component of membrane; endoplasmic reticulum lumen; endoplasmic reticulum membrane; endoplasmic reticulum; membrane;
Biological process	glycosaminoglycan metabolic process; cellular macromolecule catabolic process; lysosomal lumen acidification; ganglioside metabolic process; cholesterol metabolic process; protein catabolic process; locomotion involved in locomotory behavior; lysosome organization; visual perception; positive regulation of proteolysis;
	Sources:Amigo / QuickGO
Orthologs
	54982
	76524
	n/a
	ENSMUSG00000032245
	Q9NWW5
	n/a
	NM_017882
	NM_001033175
	NP_060352
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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