DYSF wt Allele

Preferred Label : DYSF wt Allele;

NCIt synonyms : FLJ00175; FER1L1; Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) wt Allele; LGMD2B; FLJ90168;

NCIt definition : Human DYSF wild-type allele is located in the vicinity of 2p13.3 and is approximately 233 kb in length. This allele, which encodes dysferlin protein, is involved in sarcolemmal repair and muscle contraction. Mutation of the gene is associated with limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset, and Miyoshi myopathy.;

NCIt note : Viral transfer of DNA which encodes fragments of dysferlin may be useful in treating muscular degeneration caused by mutation of the DYSF gene. (Sci Transl Med 2010; 2: 50-69.);

GenBank Accession Number : AF075575;

Details

Origin ID

C94681;

UMLS CUI

C2986625;

OMIM relation
- Dysferlin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Distal Muscular Dystrophy [NCIt concept]
- Limb-Girdle Muscular Dystrophy [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Calcium Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Muscle Contraction [NCIt concept]

Keyword's position in hierarchy(ies) :

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