CLN6

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.^[4][5][6]

AliasesCLN6, CLN4A, HsT18960, nclf, ceroid-lipofuscinosis, neuronal 6, late infantile, variant, transmembrane ER protein, CLN6 transmembrane ER protein, CLN6A

External IDsOMIM: 606725; MGI: 2159324; HomoloGene: 9898; GeneCards: CLN6; OMA:CLN6 - orthologs

Chr.Chromosome 9 (mouse)^[1]

End62,759,288 bp^[1]

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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; OMA:CLN6 - orthologs
Gene location (Mouse) Chr. Chromosome 9 (mouse)[1] Band 9 B|9 33.89 cM Start 62,746,067 bp[1] End 62,759,288 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte bone marrow bone marrow cell rectum renal cortex placenta kidney islet of Langerhans blood appendix Top expressed in yolk sac islet of Langerhans spermatocyte lip seminiferous tubule muscle of thigh proximal tubule right kidney corneal stroma neural layer of retina More reference expression data BioGPS 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 Species Human Mouse Entrez 54982 76524 Ensembl n/a ENSMUSG00000032245 UniProt Q9NWW5 n/a RefSeq (mRNA) NM_017882 NM_001033175 RefSeq (protein) NP_060352 n/a Location (UCSC) n/a Chr 9: 62.75 – 62.76 Mb PubMed search [2] [3]
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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.^[7] The EGRESS complex is composed of CLN6 and CLN8 proteins.^[7] 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.^[7]