" /> 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;

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31/05/2025


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