CLN8 information

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]

^ ^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)".

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