NEB wt Allele - CISMeF

Preferred Label : NEB wt Allele;

NCIt synonyms : Nemaline Myopathy Type 2 Gene; NEM2; NEB177D; AMC6; Nebulin wt Allele;

NCIt definition : Human NEB wild-type allele is located in the vicinity of 2q23.3 and is approximately 249 kb in length. This allele, which encodes nebulin protein, plays a role in muscle cell development and sarcomere maintenance. Mutations in the gene are associated with arthrogryposis multiplex congenita 6 and autosomal recessive nemaline myopathy 2.;

NCIt note : Alternative splicing of the NEB gene results in the tissue-, and developmental stage-specific expression of at least 4 isoforms. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced; however, exons 143 and 144 are not present in the same transcript. (EntrezGene);

NCI Metathesaurus CUI : CL1926547;

GenBank Accession Number : X83957;

Details

Origin ID

C203907;

UMLS CUI

C5891040;

OMIM relation
- Nebulin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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