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Open Access Articles- Top Results for COL4A6

COL4A6

Template:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/rowTemplate:Infobox3cols/row
Identifiers
SymbolsCOL4A6 ; CXDELq22.3; DELXq22.3; DFNX6
External IDsOMIM303631 MGI2152695 HomoloGene48050 GeneCards: COL4A6 Gene
RNA expression pattern
File:PBB GE COL4A6 211473 s at tn.png
File:PBB GE COL4A6 213992 at tn.png
File:PBB GE COL4A6 210945 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez128894216
EnsemblENSG00000197565ENSMUSG00000031273
UniProtQ14031B1AVK5
RefSeq (mRNA)NM_001287758NM_053185
RefSeq (protein)NP_001274687NP_444415
Location (UCSC)Chr X:
107.39 – 107.68 Mb
Chr X:
141.17 – 141.47 Mb
PubMed search[1][2]

Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.[1][2]

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. Two splice variants have been identified for this gene.[2]

References

  1. ^ Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders ST (Sep 1993). "Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors". Science 261 (5125): 1167–9. PMID 8356449. doi:10.1126/science.8356449. 
  2. ^ a b "Entrez Gene: COL4A6 collagen, type IV, alpha 6". 

Further reading

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