CLN5

For the Canadian airport code CLN5, see Astorville/Lake Nosbonsing Water Aerodrome.

Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.^[5][6][7]

CLN5
Identifiers
Aliases	CLN5, NCL, ceroid-lipofuscinosis, neuronal 5, intracellular trafficking protein, CLN5 intracellular trafficking protein
External IDs	OMIM: 608102; MGI: 2442253; HomoloGene: 4738; GeneCards: CLN5; OMA:CLN5 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q22.3 Start 76,990,660 bp[1] End 77,019,143 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 E2.3|14 51.71 cM Start 103,307,652 bp[2] End 103,315,064 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left lobe of thyroid gland right lobe of thyroid gland pericardium renal medulla Achilles tendon olfactory zone of nasal mucosa islet of Langerhans popliteal artery tibial arteries gallbladder Top expressed in granulocyte decidua blood calvaria gastrula right kidney interventricular septum yolk sac genital tubercle endothelial cell of lymphatic vessel More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding mannose binding Cellular component perinuclear region of cytoplasm lysosomal membrane Golgi apparatus extracellular exosome endoplasmic reticulum lysosome cytosol membrane integral component of membrane Biological process glycosylation brain development lysosomal lumen acidification signal peptide processing protein catabolic process neuron maturation retrograde transport, endosome to Golgi positive regulation of GTP binding neurogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1203 211286 Ensembl ENSG00000102805 ENSMUSG00000022125 UniProt O75503 Q3UMW8 RefSeq (mRNA) NM_006493 NM_001366624 NM_001033242 RefSeq (protein) NP_006484 NP_001353553 NP_001028414 Location (UCSC) Chr 13: 76.99 – 77.02 Mb Chr 14: 103.31 – 103.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The neuronal ceroid lipofuscinoses (CLN or NCL) are a group of autosomal recessive, progressive encephalopathies in children. They are characterized by psychomotor deterioration, visual failure, and the accumulation of autofluorescent lipopigment in neurons and other cell types. The main childhood forms are the infantile type (Santavuori-Haltia disease; MIM 256730), the late infantile type (Jansky–Bielschowsky disease; MIM 204500), and the juvenile type (Batten disease; MIM 204200) based on the age of onset, clinical course, neurologic and ophthalmologic findings, and ultrastructural analysis (Carpenter et al., 1977 [PubMed 193610]).[supplied by OMIM]^[7]

A human clinical trial of gene therapy for the CLN5 form of Batten disease began in 2022 through the University of Rochester, using vectors developed by the Hughes research lab in New Zealand.^[8]