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Gene : COL7A1 Homo sapiens

Name  ? collagen type VII alpha 1 chain Cytological Location  3p21.31
Brief Description  collagen type VII alpha 1 chain
Description  This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
  • synonyms:
  • COL7A1,
  • EBD1,
  • collagen, type VII, alpha 1,
  • epidermolysis bullosa, dystrophic, dominant and recessive,
  • NM_000094,
  • L02870,
  • EBR1,
  • EBDCT,
  • uc003ctz.3,
  • EBD1,
  • EBDCT,
  • collagen VII, alpha-1 polypeptide,
  • EBR1,
  • LC collagen,
  • NDNC8,
  • OTTHUMG00000133541,
  • HGNC:2214
  • identifiers:
  • 1294,
  • ENSG00000114270,
  • COL7A1

Genome feature

Region: gene ? Length: 31257  
Location: 3:48564073-48595329 reverse strand Cyto location: 3p21.31


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

7 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

72 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results