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Gene : COL27A1 Homo sapiens

Name  ? collagen type XXVII alpha 1 chain Cytological Location  9q32
Brief Description  collagen type XXVII alpha 1 chain
Description  This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
  • synonyms:
  • OTTHUMG00000020537,
  • MGC11337,
  • AB058773,
  • COL27A1,
  • KIAA1870,
  • uc011lxl.3,
  • HGNC:22986,
  • collagen type XXVII alpha 1,
  • collagen, type XXVII, alpha 1,
  • STLS,
  • NM_032888,
  • FLJ11895
  • identifiers:
  • 85301,
  • ENSG00000196739,
  • COL27A1

Genome feature

Region: gene ? Length: 158241  
Location: 9:114154271-114312511 Cyto location: 9q32


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Disease

1 Diseases

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500 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results