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.
COL12A1 Gene
DefinitionThis section has been translated automatically.
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.