| Background | This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. |
| Tissue Specificity | Isoform 2 is found in kidney. |
| Post Translational Modifications | Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens. The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues. |
| Function | Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. |
| Database Links | Reactome: R-HSA-1442490 |
| Cellular Localisation | SecretedExtracellular SpaceExtracellular MatrixBasement Membrane |
| Protein Name | Collagen Alpha-5(Iv Chain |
| Alternative Names | Anti-Collagen Alpha-5(Iv Chain antibodyAnti-COL4A5 antibody |
Information sourced from uniprot.org
