Collagen, type IV, alpha 6

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COL4A6
Identifiers
AliasesCOL4A6, CXDELq22.3, DELXq22.3, DFNX6, collagen type IV alpha 6, collagen type IV alpha 6 chain
External IDsMGI: 2152695 HomoloGene: 48050 GeneCards: COL4A6
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for COL4A6
Genomic location for COL4A6
BandXq22.3Start108,155,607 bp[1]
End108,439,497 bp[1]
RNA expression pattern
PBB GE COL4A6 210945 at fs.png

PBB GE COL4A6 211473 s at fs.png

PBB GE COL4A6 213992 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001287758
NM_001287759
NM_001287760
NM_001847
NM_033641

NM_053185

RefSeq (protein)

n/a

Location (UCSC)Chr X: 108.16 – 108.44 MbChr X: 141.17 – 141.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.[5][6]

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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000197565 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031273 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. doi:10.1126/science.8356449. PMID 8356449. 
  6. ^ a b "Entrez Gene: COL4A6 collagen, type IV, alpha 6". 

Further reading[edit]