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3 Possible Causes for Mutation in the Tripartite Motif Containing Protein 32 Gene

  • Bardet-Biedl Syndrome Type 11

    Reviewed - Annotation score: - Experimental evidence at protein level i Names & Taxonomy i Organism-specific databases Pathology & Biotech i Involvement in disease i Bardet-Biedl syndrome 12 (BBS12) The disease is caused by mutations affecting the gene represented in this entry. Disease description A syndrome[…][uniprot.org]

  • Sarcotubular Myopathy

    We report that sarcotubular my-opathy (STM) is caused by mutation in TRIM32, thegene encoding the tripartite motif-containing protein 32.TRIM32 was found to be the gene mutated[docslide.com.br]

  • Limb-Girdle Muscular Dystrophy

    LGMD2H - The Tripartite-motif-containing gene 32 ( TRIM32 ) gene spans 14kb of genomic sequence at chromosome 9q33.1 and the transcript is composed of 2 exons, with the first[ncbi.nlm.nih.gov] Moreover, a human muscle LIM protein (MLP) mutation (W4R) associated with dilated cardiomyopathy (DCM) results in a marked defect in Telethonin interaction/ localization ([ncbi.nlm.nih.gov]

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