DNAJC5 wt Allele

Preferred Label : DNAJC5 wt Allele;

NCIt synonyms : Ceroid-Lipofuscinosis, Neuronal 4 (Kufs Disease) Gene; CLN4; CLN4B; FLJ00118; Cysteine String Protein Alpha Gene; NCL; DNAJC5A; DnaJ (Hsp40) Homolog, Subfamily C, Member 5 Gene; DnaJ/Hsp40 Homolog, Subfamily C, Member 5 Gene; CSP; DnaJ/Hsp40 Homolog, Subfamily C, Member 5, Alpha Gene; FLJ13070; CSP-Alpha Gene; DnaJ Heat Shock Protein Family (Hsp40) Member C5 wt Allele;

NCIt definition : Human DNAJC5 wild-type allele is located in the vicinity of 20q13.33 and is approximately 41 kb in length. This allele, which encodes DnaJ homolog subfamily C member 5 protein, plays a role in chaperone activity for proteins that are subjected to exocytosis. Mutation of the gene is associated with ceroid neuronal lipofuscinosis 4.;

NCI Metathesaurus CUI : CL1915119;

GenBank Accession Number : NM_025219;

Details

Origin ID

C200861;

UMLS CUI

C5848996;

OMIM relation
- Dnaj/hsp40 homolog, subfamily C, member 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.33 [NCIt concept]
gene_plays_role_in_process
- Chaperone Protein Interaction Process [NCIt concept]
- Exocytosis [NCIt concept]
- Heat-Shock Response [NCIt concept]
- Protein Folding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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