CLN5 wt Allele

Preferred Label : CLN5 wt Allele;

NCIt synonyms : Ceroid-Lipofuscinosis, Neuronal 5 Gene; CLN5 Intracellular Trafficking Protein wt Allele; CLN5, Intracellular Trafficking Protein Gene;

NCIt definition : Human CLN5 wild-type allele is located in the vicinity of 13q22.3 and is approximately 28 kb in length. This allele, which encodes ceroid-lipofuscinosis neuronal protein 5, plays a role in localization of proteins to the lysosome. Nonsense and missense mutations in the gene are associated with neuronal ceroid lipofuscinosis type 5.;

NCI Metathesaurus CUI : CL1907134;

GenBank Accession Number : NM_006493;

Details

Origin ID

C200332;

OMIM relation
- Cln5 intracellular trafficking protein [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

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