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Gene : FLNA Homo sapiens

Name  ? filamin A Cytological Location  Xq28
Brief Description  filamin A
Description  The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
  • synonyms:
  • MNS,
  • FGS2,
  • FLN-A,
  • CSBS,
  • alpha filamin,
  • XMVD,
  • actin binding protein 280,
  • NM_001110556,
  • OPD2,
  • X70082,
  • FMD,
  • FLN1,
  • HGNC:3754,
  • filamin A, alpha (actin binding protein 280),
  • FLN,
  • FLN,
  • CVD1,
  • OTTHUMG00000022712,
  • OPD1,
  • FLN1,
  • OPD,
  • XLVD,
  • ABP-280,
  • filamin A, alpha,
  • FLNA,
  • NHBP,
  • uc010nuu.1,
  • OPD1,
  • OPD2,
  • ABP-280,
  • ABPX
  • identifiers:
  • 2316,
  • ENSG00000196924,
  • FLNA

Genome feature

Region: gene ? Length: 26108  
Location: X:154348531-154374638 reverse strand Cyto location: Xq28

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9 Diseases

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244 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results