type XI collagen

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  • Type XI collagen plays an important role in the structure and function of the inner ear.
  • These disorders are caused by defects in type II or type XI collagen.
  • These genes carry instructions for the protein strands that make up type II and type XI collagen.
  • These mutations prevent the normal assembly of type XI collagen.
  • The cross-linkages result in the formation of very strong mature type XI collagen fibers.
  • The protein made by the COL11A2 gene is involved in the production of type XI collagen.
  • Type XI collagen also helps maintain the spacing and diameter of type II collagen fibrils.
  • This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen.
  • Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain.
  • As a result, type XI collagen is impaired and cannot function properly, causing the skeletal and hearing problems characteristic of Stickler syndrome.
  • This mutation prevents collagen molecules from being assembled properly, which disrupts the structure of type XI collagen.
  • The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen.
  • Type XI collagen is normally found in cartilage, the tissue that cushions bones and joints and makes up the flexible portions of the nose and ears.
  • Type XI collagen adds structure and strength to the tissues that support the body's muscles, joints, organs and skin (the connective tissue).
  • Type XI collagen, on the other hand, is composed of three different alpha chains: the products of the COL2A1, COL11A1, and COL11A2 genes.
  • COL11A2 (collagen, type XI, alpha 2) is a human gene that is one of several genes that provide instructions for the production of type XI collagen.
  • This mutation causes the amino acid glycine to be replaced with the amino acid glutamic acid at position 955 in the alpha 2 chain of type XI collagen (written as Gly955Glu).
  • Type II and type XI collagen disorders are grouped together because both types of collagen are components of the cartilage found in joints and the spinal column, the inner ear, and the jelly-like substance that fills the eyeball (the vitreous).
  • One family carries a mutation that substitutes the amino acid cysteine (a building block of proteins) for the amino acid arginine at position 549 (written as Arg549Cys) in the alpha 2 chain of type XI collagen.