CLN5
Sign in to saveAlso known as NCL, ceroid-lipofuscinosis, neuronal 5, CLN5, intracellular trafficking protein, CLN5 intracellular trafficking protein
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.
Gene data
CLN5- Name
- CLN5 lysosomal BMP synthase
- Type
- protein-coding
- Position
- 76,990,660–77,063,028 (+)
- Ensembl
- ENSG00000102805
- RefSeq RNA
- NM_001366624.2, NM_006493.4
- RefSeq protein
- NP_001353553.1, NP_006484.2
This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
CLN5 lysosomal BMP synthase
- Symbol
- CLN5
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 13:76,990,660-77,063,028
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 4738
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1203
- genomic end
- 77576652
- genomic start
- 77564795
- chromosome
- human chromosome 13
- cytogenetic location
- 13q22.3
- genetic association
- neuronal ceroid lipofuscinosis
- expressed in
- gallbladder
via Wikidata · CC0
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Encyclopedic overview
3 sectionsContents
- References
- Further reading
- External links
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.
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]
Excerpted from Wikipedia’s “CLN5” article, available under the CC BY-SA 4.0 licence.