MAA - Col1a2 collagen type I alpha 2 chain Gene

Predicted to enable several functions, including identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Predicted to be an extracellular matrix structural constituent. Involved in cellular response to retinoic acid; cellular response to thyroid hormone stimulus; and response to norepinephrine. Predicted to be located in endoplasmic reticulum. Predicted to be part of Collagen type I trimer. Predicted to be active in extracellular matrix and extracellular space. Biomarker of hypothyroidism; muscular atrophy; pulmonary fibrosis; and ureteral obstruction. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis. Orthologous to human COL1A2 (Collagen type I alpha 2 chain). [provided by Alliance of Genome Resources, Apr 2022]