CLN6 information

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.^[4]^[5]^[6]

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]

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032245 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE (Jul 1997). "Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23". Hum Mol Genet. 6 (4): 591–5. doi:10.1093/hmg/6.4.591. PMID 9097964.
^ Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (Jan 2002). "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein". Am J Hum Genet. 70 (2): 537–42. doi:10.1086/338708. PMC 384927. PMID 11727201.
^ "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".
^ ^a ^b ^c Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M (Jun 2020). "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer". J Clin Invest. 130 (8): 4118–4132. doi:10.1172/JCI130955. PMC 7410054. PMID 32597833.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000032245 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9097964-4] Sharp JD, Wheeler RB, Lake BD, Savukoski M, Jarvela IE, Peltonen L, Gardiner RM, Williams RE (Jul 1997). "Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23". Hum Mol Genet. 6 (4): 591–5. doi:10.1093/hmg/6.4.591. PMID 9097964.

[pmid11727201-5] Wheeler RB, Sharp JD, Schultz RA, Joslin JM, Williams RE, Mole SE (Jan 2002). "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein". Am J Hum Genet. 70 (2): 537–42. doi:10.1086/338708. PMC 384927. PMID 11727201.

[entrez-6] "Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant".

[pmid32597833-7] Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M (Jun 2020). "A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer". J Clin Invest. 130 (8): 4118–4132. doi:10.1172/JCI130955. PMC 7410054. PMID 32597833.

CLN6 information

and 9 Related for: CLN6 information

CLN6

Lysosome

Neuronal ceroid lipofuscinosis

Kufs disease

CLN

Batten disease

Lysosomal storage disease

List of OMIM disorder codes

CLN8