Gene: COL4A1

Alternate names for this Gene: BSVD|BSVD1|COL4A1s|PADMAL|RATOR

Gene Summary: This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: collagen type IV alpha 1 chain

Type of Gene: protein-coding

Gene: COL4A2

Alternate names for this Gene: BSVD2|ICH|POREN2

Gene Summary: 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: collagen type IV alpha 2 chain

Type of Gene: protein-coding