COL4A4

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Collagen, type IV, alpha 4
Identifiers
Symbols COL4A4 ; CA44
External IDs OMIM120131 MGI104687 HomoloGene20071 GeneCards: COL4A4 Gene
RNA expression pattern
PBB GE COL4A4 214602 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1286 12829
Ensembl ENSG00000081052 ENSMUSG00000067158
UniProt P53420 Q9QZR9
RefSeq (mRNA) NM_000092 NM_007735
RefSeq (protein) NP_000083 NP_031761
Location (UCSC) Chr 2:
227.87 – 228.03 Mb
Chr 1:
82.45 – 82.59 Mb
PubMed search [1] [2]

Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4 gene.[1][2]

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR.[2]

Disease Database[edit]

LOVD Alport gene variant databases (COL4A4, COL4A3, COL4A5)

References[edit]

  1. ^ Mariyama M, Zheng K, Yang-Feng TL, Reeders ST (Aug 1992). "Colocalization of the genes for the alpha 3(IV) and alpha 4(IV) chains of type IV collagen to chromosome 2 bands q35-q37". Genomics 13 (3): 809–13. doi:10.1016/0888-7543(92)90157-N. PMID 1639407. 
  2. ^ a b "Entrez Gene: COL4A4 collagen, type IV, alpha 4". 

Further reading[edit]