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Type III collagen is a known ligand for the receptor GRP56. The first single base mutation in the COL3A1 gene was reported in 1989 in a patient with vEDS and changed a glycine amino acid to a serine [20] Since then, over 600 different mutations have been characterized in the COL3A1 gene. [21]
Collagen type 1: Osteogenesis imperfecta Arthrochalasia type of Ehlers–Danlos syndrome Classic variant of Ehlers–Danlos syndrome: COL1A2: Collagen type 1: Arthrochalasia type of Ehlers–Danlos syndrome Cardiac valvular type of Ehlers–Danlos syndrome: COL3A1: Collagen type 3: Hypermobility variant of Ehlers–Danlos syndrome
1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protein) NP_000079 NP_031768 Location (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene ...
The protein determined by the COL3A1 gene is used to assemble larger type III collagen molecules, found mostly in skin, blood vessels, and internal organs. [ citation needed ] When the structure or production of type III collagen is altered by a mutation in the COL3A1 gene, collagen fibrils cannot be assembled properly in these tissues, which ...
Reticular fibers, reticular fibres or reticulin is a type of fiber in connective tissue [1] composed of type III collagen secreted by reticular cells. [2] They are mainly composed of reticulin protein and form a network or mesh. Reticular fibers crosslink to form a fine meshwork (reticulin).
Collagen is also abundant in corneas, blood vessels, the gut, intervertebral discs, and the dentin in teeth. [3] In muscle tissue, it serves as a major component of the endomysium. Collagen constitutes 1% to 2% of muscle tissue and 6% by weight of skeletal muscle. [4] The fibroblast is the most common cell creating collagen in animals.