COL6A3

Description		collagen type VI alpha 3 chain
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GO Annotations	Cellular Component	Extracellular Region Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Collagen-containing Extracellular Matrix Extracellular Exosome Extracellular Vesicle
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	Growth Plate Cartilage Chondrocyte Morphogenesis Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization
Pathways		Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans ECM proteoglycans NCAM1 interactions Collagen chain trimerization
Drugs
Diseases		Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
GWAS		Abstraction and mental flexibility ( 31596458) Aging (time to event) ( 21782286) Coronary artery disease ( 29212778) Cortex volume ( 31530798) HDL cholesterol ( 26160806) Heel bone mineral density ( 30598549) Intraocular pressure ( 29617998 29235454) LDL cholesterol ( 26160806) Lung cancer ( 28604730) Pulse pressure ( 27841878)
Interacting Genes		2 interacting genes: MMP2 PPT1
Entrez ID		1293
HPRD ID		00371
Ensembl ID		ENSG00000163359
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1
PDB IDs		1KNT 1KTH 1KUN 2KNT
Enriched GO Terms of Interacting Partners?
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