信号通路： Focal adhesion;ECM-receptor interaction;Pathways in cancer;Small cell lung cancer;
功能： disease:Deletions covering the N-terminal regions of COL4A6 and COL4A5, which are localized in a head-to-head manner, are the cause of diffuse leiomyomatosis with Alport syndrome (DL-ATS) [MIM:308940]; also known as esophageal and vulval leiomyomatosis with nephropathy or Alport syndrome and diffuse leiomyomatosis (ATS-DL). DL-ATS is the combination of Alport syndrome (AS) and diffuse leiomyomatosis (DL). AS is characterized by progressive glomerulonephritis, often associated with high-tone sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract.,domain:Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.,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.,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.,PTM: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.,similarity:Belongs to the type IV collagen family.,similarity:Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.,subunit:There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.,
信号通路： Focal adhesion;ECM-receptor interaction;Pathways in cancer;Small cell lung cancer;
功能： disease:Deletions covering the N-terminal regions of COL4A6 and COL4A5, which are localized in a head-to-head manner, are the cause of diffuse leiomyomatosis with Alport syndrome (DL-ATS) [MIM:308940]; also known as esophageal and vulval leiomyomatosis with nephropathy or Alport syndrome and diffuse leiomyomatosis (ATS-DL). DL-ATS is the combination of Alport syndrome (AS) and diffuse leiomyomatosis (DL). AS is characterized by progressive glomerulonephritis, often associated with high-tone sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. DL is a tumorous process involving smooth muscle cells, mostly of the esophagus, but also of the tracheobronchial tree and the female genital tract.,domain:Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.,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.,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.,PTM: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.,similarity:Belongs to the type IV collagen family.,similarity:Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.,subunit:There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.,
在线咨询
湘公网安备