KLHL40 wt Allele

Preferred Label : KLHL40 wt Allele;

NCIt synonyms : Kelch-Like 40 (Drosophila) Gene; Nemaline Myopathy Type 8 Gene; Kelch Repeat and BTB (POZ) Domain Containing 5 Gene; KBTBD5; SRYP; NEM8; SYRP; Kelch-Like 40 Gene; Kelch Like Family Member 40 wt Allele;

NCIt definition : Human KLHL40 wild-type allele is located in the vicinity of 3p22.1 and is approximately 7 kb in length. This allele, which encodes kelch-like protein 40, is involved in targeting proteins for ubiquitination and degradation. Mutation of the gene is associated with nemaline myopathy 8.;

NCI Metathesaurus CUI : CL1921533;

GenBank Accession Number : AK056577;

Details

Origin ID

C202678;

UMLS CUI

C5890924;

OMIM relation
- Kelch-like 40: klhl40 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p21.1 [NCIt concept]
gene_plays_role_in_process
- Myogenesis [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Ubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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