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• COL6A2
  ...genes. It is responsible for the production of the alpha2 chain of type VI collagen, a protein that plays a crucial role in maintaining the integrity and struc ...ucing'. The term signifies the gene's role in producing a specific type of collagen.
  2 KB (244 words) - 23:30, 14 February 2024
• COL6A3
  ...ides instructions for making a component of type VI collagen. This type of collagen is found in the [[Extracellular matrix]], a complex structural network that ...lpha 3 Chain" refers to one of the three alpha chains that make up type VI collagen.
  2 KB (263 words) - 22:41, 14 February 2024
• COL3A1
  ...nciation: /koʊlˈθriːeɪˈwʌn/'') is a gene that encodes the protein type III collagen. This protein is a major component of the [[Extracellular matrix]] in vario ...I collagen, "A" stands for "alpha", and "1" indicates that it is the first gene of this type identified.
  2 KB (247 words) - 22:04, 14 February 2024
• COL2A1
  ...tructions for making a protein component of type II collagen. This type of collagen is found mostly in the cartilage that forms the spine, the eye's vitreous h ..." is an abbreviation for "Collagen, type II, alpha 1," which describes the gene's function and its position in a family of similar genes.
  2 KB (297 words) - 22:25, 14 February 2024
• COL9A1
  ...', is a [[Protein|protein]] that in humans is encoded by the COL9A1 [[Gene|gene]]. The term '''COL9A1''' is derived from the words '''Collagen''', referring to the type of protein it encodes, and '''Type IX Alpha 1 Cha
  1 KB (173 words) - 23:24, 14 February 2024
• COL7A1 gene
  |Term=COL7A1 gene |Short definition=COL7A1 gene - A gene that makes a type of collagen that plays an important role in strengthening and supporting the layers of
  801 bytes (130 words) - 08:32, 8 January 2023
• COL6A1
  ...n, is a [[Protein|protein]] that in humans is encoded by the COL6A1 [[Gene|gene]]. ..., hair, nails, bones, and joints. 'Type VI' refers to the specific type of collagen, and 'Alpha 1 Chain' refers to the specific chain of the protein.
  1 KB (206 words) - 21:53, 14 February 2024
• COL9A2
  ...-2) is a gene that provides instructions for making a component of type IX collagen. The term "COL9A2" is derived from the words "Collagen", referring to the protein family it belongs to, and "9A2", indicating its
  2 KB (281 words) - 22:56, 14 February 2024
• COL11A1
  ...es instructions for making one component of type XI collagen. This type of collagen is found in the [[Cartilage]] and the [[Vitreous]] of the eye. ...COL11A1 is an abbreviation for "Collagen Type XI Alpha 1 Chain". The term "collagen" comes from the Greek words "kolla" meaning "glue" and "gen" meaning "produ
  2 KB (233 words) - 23:23, 14 February 2024
• COL17A1 gene
  |Term=COL17A1 gene |Short definition=COL17A1 gene - A gene that makes a type of collagen that plays an important role in strengthening and supporting the layers of
  854 bytes (138 words) - 08:00, 8 January 2023
• Col2a1
  ...en found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with a variety of skeletal disorders, including [[Osteoarthr ...II, alpha 1", which describes the protein that the gene encodes. The term "collagen" comes from the Greek "kolla," meaning "glue," and "gen," meaning "producin
  2 KB (279 words) - 22:37, 14 February 2024
• List of genes mutated in cutaneous conditions
  * [[Mutation]]: A change in the DNA sequence of a gene. * [[Gene]]: A unit of heredity which is transferred from a parent to offspring and i
  2 KB (223 words) - 22:26, 7 February 2024
• Kniest dysplasia
  ...nstructions for making a protein that forms type II collagen. This type of collagen is found in the cartilage and is essential for the normal development of bo ...testing can confirm the diagnosis by identifying a mutation in the COL2A1 gene.
  2 KB (248 words) - 20:39, 9 February 2024
• Spondyloperipheral dysplasia
  ...us]]). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developin * [[Collagen]]
  2 KB (275 words) - 19:23, 11 February 2024
• Marshall syndrome
  ...ne provides instructions for making a protein that is used to form type XI collagen, a complex molecule that provides structure and strength to the body's tiss ...testing can confirm the diagnosis by identifying a mutation in the COL11A1 gene.
  2 KB (254 words) - 12:01, 10 February 2024
• Hypochondrogenesis
  ...us]]). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and cartilage from developing properly.
  2 KB (292 words) - 01:48, 8 February 2024
• Ochronosis
  ...tissues, leading to pigmentation changes and degeneration of cartilage and collagen. ...ration of the skin and other tissues, particularly the [[cartilage]] and [[collagen]]. Other symptoms may include arthritis, heart valve disease, and kidney st
  2 KB (242 words) - 04:52, 6 February 2024
• Osteogenesis Imperfecta
  ...tations in several [[gene|genes]] that are involved in the production of [[collagen]], a protein that helps strengthen bones. The most common mutations are in * [[Gene]]
  2 KB (250 words) - 15:18, 11 February 2024
• Epidermolysis bullosa dystrophica
  ...tructions for making a protein that is used to assemble type VII collagen. Collagen provides structure and strength to the connective tissues that support the
  2 KB (268 words) - 19:47, 7 February 2024
• SOX9
  '''SOX9''' (pronounced as "socks nine") is a gene that provides instructions for making a protein that plays a critical role ...mammals. The number "9" indicates that it was the ninth member of the SOX gene family to be discovered.
  2 KB (254 words) - 04:14, 14 February 2024

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