CLN3 wt Allele

Preferred Label : CLN3 wt Allele;

NCIt synonyms : JNCL; CLN3, Battenin wt Allele; Ceroid-Lipofuscinosis, Neuronal 3 Gene; Juvenile Neuronal Ceroid Lipofuscinosis Gene; BTN1; Batten, Spielmeyer-Vogt Disease Gene; BTS;

NCIt definition : Human CLN3 wild-type allele is located in the vicinity of 16p12.1 and is approximately 29 kb in length. This allele, which encodes battenin protein, is involved in microtubule-dependent transport of organelles. Deletions within the gene are associated with neuronal ceroid lipofuscinosis type 3 (Batten disease).;

NCI Metathesaurus CUI : CL936053;

GenBank Accession Number : U32680;

Détails

Origin ID

C156971;

UMLS CUI

C4724193;

Automatic exact mappings (from CISMeF team)
- CLN3 lysosomal/endosomal transmembrane protein, battenin [ORDO Gene]
- Ceroid lipofuscinosis, neuronal, 3 [OMIM Phenotype]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]
- sexually transmitted diseases [MeSH Descriptor]
OMIM relation
- Cln3 lysosomal/endosomal transmembrane protein, battenin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p12.1 [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]
- Transport Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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