NCBI and Uniprot Product Information
NCBI Description
This gene encodes the major type IV alpha collagen chain of basement membranes. 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. [provided by RefSeq, Jul 2008]
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: Extracellular matrix; Secreted, signal peptide; Secreted
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; axon guidance; collagen catabolic process; receptor-mediated endocytosis; extracellular matrix disassembly; 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
Research Articles on COL4
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Product Notes
The Goat COL4 col4a1 (Catalog #AAA738801) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA738801 ELISA Kit recognizes Goat COL4. It is sometimes possible for the material contained within the vial of "Collagen Type IV, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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