COL4A2 Antibody – Rabbit Polyclonal

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 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]

COL4A2: 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 COL4A2 are the cause of porencephaly type 2 (POREN2). POREN2 is a neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles. Defects in COL4A2 are a cause of susceptibility to intracerebral hemorrhage (ICH). ICH is a pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Belongs to the type IV collagen family.

Protein type: Secreted; Extracellular matrix; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 13q34

Cellular Component: extracellular matrix; intracellular membrane-bound organelle; endoplasmic reticulum lumen; collagen type IV; extracellular region

Molecular Function: protein binding; extracellular matrix structural constituent

Biological Process: axon guidance; collagen catabolic process; extracellular matrix disassembly; receptor-mediated endocytosis; negative regulation of angiogenesis; extracellular matrix organization and biogenesis; transcription, DNA-dependent; angiogenesis

Disease: Porencephaly 2; Hemorrhage, Intracerebral, Susceptibility To