DNAJB6 wt Allele

Preferred Label : DNAJB6 wt Allele;

NCIt synonyms : HSJ2; DnaJ (Hsp40) Homolog, Subfamily B, Member 6 wt Allele; DJ4; MRJ; MSJ-1; LGMD1E; DnaJ; tcag7.555; HHDJ1; HSJ-2;

NCIt definition : Human DNAJB6 wild-type allele is located in the vicinity of 7q36.3 and is approximately 82 kb in length. This allele, which encodes DnaJ homolog subfamily B member 6 protein, plays a role in the regulation of protein folding and aggregation. Mutation of the gene is associated with limb-girdle muscular dystrophy type 1E.;

NCIt note : A fusion involving the DNAJB6 and SHH gene leading to the expression of a truncated SHH gene product may be associated with medulloblastoma. (Nature. 2012; 488:100-105.);

GenBank Accession Number : AB014888;

Details

Origin ID

C102931;

UMLS CUI

C3539697;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
- DnaJ heat shock protein family (Hsp40) member B6 [ORDO Gene]
- Dnaj/hsp40 homolog, subfamily a, member 1 [OMIM gene]
- Dnaj/hsp40 homolog, subfamily b, member 6 [OMIM gene]
- Muscular dystrophy, limb-girdle, autosomal dominant 1 [OMIM Phenotype]
- muscular dystrophy, Limb-Girdle, type 1E [MeSH Supplementary Concept]
OMIM relation
- Dnaj/hsp40 homolog, subfamily b, member 6 [OMIM gene]
See also inter- (CISMeF)
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Prion Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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