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48 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... synonym >ABP-280</synonym><synonym >ABPX</synonym><synonym >actin-binding protein 280</synonym><synonym >DKFZp434P031</synonym><synonym >filamin 1</ ...
  2. FLNB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/flnb
    ... for This Gene ABP-278 ABP-280 homolog actin binding protein 278 actin-binding-like protein beta-filamin FH1 ... LRS1 TABP TAP thyroid autoantigen truncated ABP truncated actin-binding protein Additional Information & Resources Tests Listed in the Genetic ...
  3. X-Linked Otopalatodigital Spectrum Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1393
    ... filamin A, a member of the class of actin-binding proteins that regulate cell stability, protrusion, and motility across ... Hartwig JH, Janmey PA, Byers HR, Stossel TP. Actin-binding protein requirement for cortical stability and efficient locomotion. Science. ...
  4. FLNA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/flna
    ... Other Names for This Gene ABP-280 ABPX actin-binding protein 280 DKFZp434P031 filamin 1 filamin A, alpha filamin A, alpha (actin binding protein 280) FLN FLN1 FLNA_HUMAN Additional Information & Resources ...
  5. Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1220
    ... with the ezrin-radxin-moesin (ERM) family of actin-binding proteins [ Lamb et al 2000 ] and hamartin also regulates ...
  6. Spinocerebellar Ataxia Type 8 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1268
    ... to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum Mol Genet. 2000; 9 :1543–51. [ ...
  7. ACTB gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/actb
    ... HUMAN actin, beta actin, cytoplasmic 1 beta cytoskeletal actin BRWS1 PS1TP5-binding protein 1 PS1TP5BP1 Additional Information & Resources Tests Listed in ...
  8. ASPM Primary Microcephaly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK555474
    ... human full-length, 3,477-amino acid ASPM protein contains two actin-binding calponin homology (CH) domains and an amino-terminal ASH microtubule-binding domain , and displays 81 calmodulin-binding IQ ... a loss of protein function. Frameshift or nonsense variants are the most ...
  9. TPM2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tpm2
    ... of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. In non-muscle cells, tropomyosin proteins play a ...
  10. TPM3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tpm3
    ... of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. In non-muscle cells, tropomyosin proteins play a ...
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