DefinitionThis section has been translated automatically.
The COL12A1 gene (COL12A1 stands for "collagen type XII alpha 1 chain") is a protein-coding G located on chromosome 6q13-q14.1. Alternatively spliced transcript variants encoding different isoforms have been identified.
General informationThis section has been translated automatically.
The COL12A1 gene encodes the alpha chain of type XII collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted triple helices). Type XII collagen is a homotrimer associated with type I collagen. This association is thought to alter the interactions between collagen I fibrils and the surrounding matrix.
Clinical pictureThis section has been translated automatically.
Diseases associated with COL12A1 include:
- a rare form of EDS(myopathic Ehlers-Danlos syndrome/ Zou Yet al. 2014).
And
- UllrichCongenital Muscular Dystrophy 2 (OMIM: 616470).
LiteratureThis section has been translated automatically.
- Delbaere S et al (2020) Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. Genet Med 22:112-123.
- Jezela-Stanek A et al (2019) Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. Clin Genet 95:736-738.
- Zou Yet al (2014) Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Molec Genet 23: 2339-2352.
