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Protein Page:
COL18A1 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: endoplasmic reticulum lumen; extracellular matrix; extracellular region; extracellular space
Biological Process: collagen catabolic process; extracellular matrix organization and biogenesis; negative regulation of cell proliferation; organ morphogenesis; visual perception
Disease: Knobloch Syndrome 1
Reference #:  P39060 (UniProtKB)
Alt. Names/Synonyms: antiangiogenic agent; COIA1; COL18A1; Collagen alpha-1(XVIII) chain; collagen, type XVIII, alpha 1; Endostatin; FLJ27325; FLJ34914; KNO; KNO1; MGC74745; multi-functional protein MFP
Gene Symbols: COL18A1
Molecular weight: 178,188 Da
Basal Isoelectric point: 5.67  Predict pI for various phosphorylation states
Select Structure to View Below

COL18A1

Protein Structure Not Found.
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