Mar 5, 2025 · Variants in COL4A1 or COL4A2 are estimated to cause approximately 20% cases of fetal intracerebral hemorrhage. Cerebral small vessel disease with hemorrhage is thought to …

Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes. Accordingly, …

Mar 30, 2025 · COL4A2 (Collagen Type IV Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL4A2 include Brain Small Vessel Disease 2 and Hemorrhage, …

Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene. [5] [6] [7] This gene encodes one of the six subunits of type IV collagen, the major structural component …

Sep 4, 2019 · The COL4A2 gene encodes the alpha-2 chain of type IV collagen. Type IV collagen is associated with laminin, entactin, and heparan sulfate proteoglycans to form the sheetlike …

dominant COL4A2 mutations are a novel major risk factor for familial cerebrovascular disease, including porencephaly and small-vessel disease with reduced penetrance and variable …

COL4A1 and COL4A2 genes encode the alpha1 and the alpha2 chains of type IV collagen, a key component of basement membranes. Mutations located in the coding sequence of …

Sep 26, 2014 · Two proα1 (IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2 (IV) chain encoded by COL4A2 and are the major component of the basement …

COL4A2 are pleiotropic and contribute to a broad spectrum of disorders, including myopathy, glaucoma and hemorrhagic stroke. Here, we summarize the contributions ofCOL4A1 and …

Oct 15, 2012 · Here, we summarize the contributions of COL4A1 and COL4A2 mutations in human disease, integrate knowledge gained from model organisms and evaluate the …