Collagen 18 Alpha 1 (COL18A1) Antibody – Rabbit Polyclonal

This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

COL18A1: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. Defects in COL18A1 are a cause of Knobloch syndrome type 1 (KNO1). An autosomal recessive disorder defined by the occurrence of high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. Belongs to the multiplexin collagen family. 3 isoforms of the human protein are produced by alternative promoter.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: extracellular matrix; extracellular space; collagen; endoplasmic reticulum lumen; extracellular region; basement membrane

Molecular Function: identical protein binding; protein binding; metal ion binding; structural molecule activity

Biological Process: response to drug; extracellular matrix organization and biogenesis; collagen catabolic process; negative regulation of cell proliferation; extracellular matrix disassembly; organ morphogenesis; visual perception; positive regulation of cell proliferation; angiogenesis; endothelial cell morphogenesis; cell adhesion; response to hydrostatic pressure; positive regulation of cell migration

Disease: Knobloch Syndrome 1