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Gene : DMTN Homo sapiens

Name  ? dematin actin binding protein Cytological Location  8p21.3
Brief Description  dematin actin binding protein
Description  The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
  • synonyms:
  • NM_001978,
  • DMTN,
  • EPB49,
  • DMT,
  • U28389,
  • OTTHUMG00000097087,
  • erythrocyte membrane protein band 4.9 (dematin),
  • EPB49,
  • HGNC:3382,
  • DMT
  • identifiers:
  • 2039,
  • ENSG00000158856,
  • DMTN

Genome feature

Region: gene ? Length: 33597  
Location: 8:22048931-22082527 Cyto location: 8p21.3


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Disease

0 Diseases

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3753 SN Ps

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results