COL19A1
Description
The COL19A1 (collagen type XIX alpha 1 chain) is a protein-coding gene located on chromosome 6.
The COL19A1 gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). While its exact function is unknown, other FACIT collagens are associated with fibril-forming collagens like type I and II, contributing to the stability of the extracellular matrix. The COL19A1 transcript has an unusually large 3' UTR that remains incompletely sequenced.
COL19A1, also known as collagen alpha-1(XIX) chain, plays a role in connecting collagen fibrils to other components of the extracellular matrix. It is involved in the development of skeletal muscle in the esophagus and may help organize the pericellular matrix and smooth muscle surrounding the esophagus.
COL19A1 is also known as COL9A1L, D6S228E.
Associated Diseases
- endometrial cancer
- esophageal cancer
- palmoplantar keratoderma-esophageal carcinoma syndrome
- familial visceral myopathy
