The COL1A1 gene encodes instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, and skin (R). 

Mutations of this gene can cause skin and bone diseases (R). 


Type I collagen is a member of group I collagen (fibrillar forming collagen).

Protein names

Recommended name:

Collagen alpha-1

Short name:


Alternative name(s):

Alpha-1 type I collagen

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