Mouse Collagen IV Monoclonal Antibody | anti-COL4A1 antibody
Collagen IV Mouse (8E5) Mouse mAb
NCBI and Uniprot Product Information
Uniprot Description
COL4A1: 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. Defects in COL4A1 are a cause of brain small vessel disease with hemorrhage (BSVDH). Brain small vessel diseases underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. Inheritance is autosomal dominant. Defects in COL4A1 are the cause of hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC). The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries. Defects in COL4A1 are a cause of familial porencephaly (POREN1). Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Belongs to the type IV collagen family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 13q34
Cellular Component: extracellular matrix; endoplasmic reticulum lumen; collagen type IV; extracellular region; basement membrane
Molecular Function: protein binding; platelet-derived growth factor binding; extracellular matrix structural constituent; extracellular matrix constituent conferring elasticity
Biological Process: patterning of blood vessels; receptor-mediated endocytosis; extracellular matrix disassembly; axon guidance; collagen catabolic process; extracellular matrix organization and biogenesis; epithelial cell differentiation; blood vessel morphogenesis; brain development; neuromuscular junction development
Disease: Porencephaly 1; Brain Small Vessel Disease With Or Without Ocular Anomalies; Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps; Hemorrhage, Intracerebral, Susceptibility To; Retinal Arteries, Tortuosity Of
