COL1A1

Full Name: Collagen Type I Alpha 1 Chain

Genomic Location: Chromosome 17:50,183,289-50,201,648

Protein Size: 1464 amino acids

Function:

Type I collagen is a member of group I collagen (fibrillar forming collagen). This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis.

Linked SNP(s):

  • rs1800012 is linked to COL1A1, it is located within the first intron.
  • Population frequencies are approximately 86% for the reference allele (G) and 14% for the alternate allele (T).
  • Studies suggest the G allele is associated with a relatively higher risk for ligament and tendon injuries.
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