COL1A1 : collagen type I alpha 1 chain

Description

The COL1A1 (collagen type I alpha 1 chain) is a protein-coding gene located on chromosome 17.

The COL1A1 gene provides instructions for making part of type I collagen, a major component of the body's connective tissues. This collagen type is essential for the strength and support of cartilage, bone, tendon, skin, and the sclera (white part of the eye). Type I collagen molecules are made up of three chains: two pro-α1(I) chains (produced from the COL1A1 gene) and one pro-α2(I) chain (produced from the COL1A2 gene). These chains undergo processing within and outside cells to form mature collagen, which then assembles into strong fibers that provide structural integrity to tissues.

Type I collagen belongs to the group I collagen family, which is known for forming collagen fibrils.

COL1A1 is also known as CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4.

Associated Diseases

• Caffey disease
• OSTEOPOROSIS
• Arthrochalasia Ehlers-Danlos syndrome
• Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
• Classical Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome, arthrochalasia type, 1
• Dermatofibrosarcoma protuberans
• Osteogenesis imperfecta, type II
• Osteogenesis imperfecta, type I
• Osteogenesis imperfecta, type IV
• Osteogenesis imperfecta, type III
• Ehlers-Danlos syndrome
• Osteogenesis imperfecta
• Intervertebral disc disease
• Carpal tunnel syndrome