UBQLN2 wt Allele

Preferred Label : UBQLN2 wt Allele;

NCIt synonyms : ALS15; PLIC-2; Ubiquilin 2 wt Allele Chap1; HRIHFB2157; LIC-2; PLIC2; NEDD4 Binding Protein 4 Gene; RIHFB2157; Ubiquilin 2 wt Allele; CHAP1; CHAP1/DSK2; N4BP4; DSK2;

NCIt definition : Human UBQLN2 wild-type allele is located in the vicinity of Xp11.21 and is approximately 3 kb in length. This allele, which encodes ubiquilin-2 protein, may be involved in the regulation of proteasome activity. Mutation of the gene is associated with amyotrophic lateral sclerosis type 15.;

GenBank Accession Number : AF189009;

Details

Origin ID

C101350;

UMLS CUI

C3538755;

OMIM relation
- Ubiquilin 2 [OMIM gene]
See also inter- (CISMeF)
- amyotrophic lateral sclerosis type 15 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Protein Degradation Inhibition [NCIt concept]

Keyword's position in hierarchy(ies) :

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