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Gene : FLNB Homo sapiens

Name  ? filamin B Cytological Location  3p14.3
Brief Description  filamin B
description  This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
  • synonyms:
  • FLN1L,
  • TAP,
  • ABP-280,
  • filamin B, beta,
  • FH1,
  • beta filamin,
  • ABP-278,
  • LRS1,
  • FH1,
  • TABP,
  • uc003djj.3,
  • ABP-278,
  • filamin B, beta (actin binding protein 278),
  • Larsen syndrome 1 (autosomal dominant),
  • TABP,
  • HGNC:3755,
  • NM_001457,
  • AF043045,
  • FLN1L,
  • AOI,
  • actin binding protein 278,
  • FLN-B,
  • SCT,
  • FLNB,
  • LRS1,
  • OTTHUMG00000159158,
  • TAP
  • identifiers:
  • 2317,
  • ENSG00000136068,
  • FLNB

Genome feature

Region: gene ? Length: 163830  
Location: 3:58008422-58172251 Cyto location: 3p14.3

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5 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results