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Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. [ 5 ] [ 6 ] It is ubiquitously expressed in many tissues and cell types. [ 7 ] COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis . [ 8 ]
Collagen IV is the more common usage, as opposed to the older terminology of "type-IV collagen". [citation needed] Collagen IV exists in all metazoan phyla, to whom they served as an evolutionary stepping stone to multicellularity. [1] There are six human genes associated with it: [2] COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6
This syndrome is caused by mutations in the COL4A1 gene, on the chromosome 13q34, this gene provides instructions for making one of the components necessary for the formation of a protein called type IV collagen, this protein is one of the main components for basement membranes throughout the body.
Autosomal dominant porencephaly type I is caused by mutations in a gene called COL4A1, located at 13q34 (band 34 on the long arm of chromosome 13). These mutations are inherited in an autosomal dominant pattern. COL4A1 codes for a form of collagen, collagen type IV, which is an important element in the construction of the vascular basement ...
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.
12829 Ensembl ENSG00000081052 ENSMUSG00000067158 UniProt P53420 Q9QZR9 RefSeq (mRNA) NM_000092 NM_007735 RefSeq (protein) NP_000083 NP_031761 Location (UCSC) Chr 2: 227 – 227.16 Mb Chr 1: 82.43 – 82.56 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4 gene. This gene encodes one of the six subunits of ...