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Gene : COL17A1 Homo sapiens

Name  ? collagen type XVII alpha 1 chain Cytological Location  10q25.1
Brief Description  collagen type XVII alpha 1 chain
Description  This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
  • synonyms:
  • collagen, type XVII, alpha 1,
  • BPAG2,
  • BPA-2,
  • OTTHUMG00000018998,
  • BP180,
  • COL17A1,
  • ERED,
  • BA16H23.2,
  • LAD-1,
  • BPAG2,
  • NM_000494,
  • BP180,
  • HGNC:2194,
  • uc001kxr.4,
  • NM_130778,
  • M91669
  • identifiers:
  • 1308,
  • ENSG00000065618,
  • COL17A1

Genome feature

Region: gene ? Length: 54595  
Location: 10:104031286-104085880 reverse strand Cyto location: 10q25.1


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Disease

2 Diseases

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360 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results