CLN8

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

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; OMA:CLN8 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p23.3 Start 1,755,778 bp[1] End 1,801,711 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A1.1|8 7.59 cM Start 14,931,335 bp[2] End 14,951,720 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus callosum C1 segment stromal cell of endometrium monocyte placenta substantia nigra tonsil skin of leg liver skin of abdomen Top expressed in lip cumulus cell motor neuron esophagus umbilical cord blastocyst epithelium of small intestine iris blastocyst medullary collecting duct More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 2055 26889 Ensembl ENSG00000182372 ENSG00000278220 ENSMUSG00000026317 UniProt Q9UBY8 Q9QUK3 RefSeq (mRNA) NM_001034061 NM_018941 NM_012000 RefSeq (protein) NP_061764 NP_036130 Location (UCSC) Chr 8: 1.76 – 1.8 Mb Chr 8: 14.93 – 14.95 Mb PubMed search [3] [4]
Wikidata
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Molecular biology

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

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.