CLN8 Knowpia

CLN8
Identifiers
Aliases	CLN8, C8orf61, EPMR, ceroid-lipofuscinosis, neuronal 8, transmembrane ER and ERGIC protein, CLN8 transmembrane ER and ERGIC protein, TLCD6
External IDs	OMIM: 607837 MGI: 1349447 HomoloGene: 10340 GeneCards: CLN8
Gene location (Human)
Chr.	Chromosome 8 (human)
End	1,801,711 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	14,951,720 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; stromal cell of endometrium; ; monocyte; ; placenta; ; substantia nigra; ; thymus; ; liver; ; skin of abdomen; ; islet of Langerhans; ; bone marrow;
	Top expressed in
	lip; ; cumulus cell; ; motor neuron; ; esophagus; ; belly cord; ; blastocyst; ; iris; ; medullary collecting duct; ; external carotid artery; ; ciliary body;
	More reference expression data
	n/a
Orthologs
	2055
	26889
	ENSG00000182372; ENSG00000278220
	ENSMUSG00000026317
	Q9UBY8
	Q9QUK3
	NM_001034061; NM_018941
	NM_012000
	NP_061764
	NP_036130
	Wikidata
View/Edit Human	View/Edit Mouse

Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.^[5]^[6]

Molecular biology edit

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.^[7] CLN8 protein functions as a cargo receptor for lysosomal soluble proteins in the ER.^[7] 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.^[8]

Clinical edit

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 edit

^ ^a ^b ^c ENSG00000278220 GRCh38: Ensembl release 89: ENSG00000182372, ENSG00000278220 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026317 – 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.
^ Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE (Oct 1999). "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8". Nat Genet. 23 (2): 233–6. doi:10.1038/13868. PMID 10508524. S2CID 23920094.
^ "Entrez Gene: CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)".
^ ^a ^b di Ronza A, Bajaj L, Sharma J, Sanagasetti D, Lotfi P, Adamski CJ, Collette J, Palmieri M, Amawi A, Popp L, Chang KT, Meschini MC, Leung HE, Segatori L, Simonati A, Sifers RN, Santorelli FM, Sardiello M (2018). "CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis". Nature Cell Biology. 20 (12): 1370–1377. doi:10.1038/s41556-018-0228-7. PMC 6277210. PMID 30397314.
^ 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.