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 be a milder form of porencephaly, sharing many symptoms except for the presence of brain cavities.

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, mutations in COL4A1 or COL4A2 are pleiotropic and contribute to a broad ...

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, Intracerebral. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

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 of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members ...

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 basement membranes that separate epithelium from connective tissue.

dominant COL4A2 mutations are a novel major risk factor for familial cerebrovascular disease, including porencephaly and small-vessel disease with reduced penetrance and variable phenotype, which might also be modified by other contributing factors.

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 COL4A1/COL4A2 genes are responsible for an autosomal dominant (AD) cerebral angiopathy that manifest in either adults, children or fetuses.

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 membrane in many tissues. Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly.

COL4A2 are pleiotropic and contribute to a broad spectrum of disorders, including myopathy, glaucoma and hemorrhagic stroke. Here, we summarize the contributions ofCOL4A1 and COL4A2 mutations in human disease, integrate knowledge gained from model organisms and evaluate the implications for patho-genic mechanisms and therapeutic approaches.

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 implications for pathogenic mechanisms and therapeutic approaches.