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Gene : COL4A6 Homo sapiens

Name  ? collagen type IV alpha 6 chain Cytological Location  Xq22.3
Brief Description  collagen type IV alpha 6 chain
Description  This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
  • synonyms:
  • CXDELq22.3,
  • HGNC:2208,
  • COL4A6,
  • collagen, type IV, alpha 6,
  • U04845,
  • DELXq22.3,
  • DFNX6,
  • uc033eqm.2,
  • NM_001287758,
  • OTTHUMG00000022179
  • identifiers:
  • 1288,
  • ENSG00000197565,
  • COL4A6

Genome feature

Region: gene ? Length: 283887  
Location: X:108155607-108439493 reverse strand Cyto location: Xq22.3


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Genomics

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Proteins

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SNPs

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Disease

1 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

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Other

841 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results