collagen type IV alpha 1 chain
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L COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen. This chain combines with another alpha1 chain and a different type of alpha (IV) chain called alpha2 to make a complete type IV collagen alpha1-1-2 molecule. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen alpha1-1-2 networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The type IV collagen network helps the basement membranes interact with nearby cells, playing a role in cell movement (migration), cell growth and division (proliferation), cell maturation (differentiation), and the survival of cells.
Normal function
L COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen. This chain combines with another alpha1 chain and a different type of alpha (IV) chain called alpha2 to make a complete type IV collagen alpha1-1-2 molecule. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen alpha1-1-2 networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The type IV collagen network helps the basement membranes interact with nearby cells, playing a role in cell movement (migration), cell growth and division (proliferation), cell maturation (differentiation), and the survival of cells.
Conditions referring to this gene or chromosome
Altri nomi
arresten
CO4A1_HUMAN
COL4A1 NC1 domain
collagen alpha-1(IV) chain
collagen alpha-1(IV) chain preproprotein
collagen IV, alpha-1 polypeptide
collagen of basement membrane, alpha-1 chain
collagen type IV alpha 1
collagen, type IV, alpha 1
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Ulteriori letture e riferimenti
- collagen type IV alpha 1 chain; MedlinePlus, National Library of Medicine.
- Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T, Marro B, Ronco P. Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology. 2009 Dec 1;73(22):1873-82. doi: 10.1212/WNL.0b013e3181c3fd12.
- Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006 Jun;43(6):490-5. doi: 10.1136/jmg.2005.035584. Epub 2005 Aug 17.
- Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke. 2010 Aug;41(8):e513-8. doi: 10.1161/STROKEAHA.110.581918. Epub 2010 Jun 17.
- Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol. 2011 Feb;24(1):63-8. doi: 10.1097/WCO.0b013e32834232c6.
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