HA20
HA20 is a gene that encodes a protein in humans. This protein is known as Hyaluronan and proteoglycan link protein 1 (HAPLN1). The HA20 gene is also known by other names, including BRAL1 and CRTL1.
Function[edit | edit source]
The HA20 gene provides instructions for making a protein that is part of a family of link proteins. These proteins stabilize the structures of extracellular matrix, which provides structure and support to cells. The protein produced from the HA20 gene is found in various tissues, including the brain, lungs, and kidneys.
Clinical significance[edit | edit source]
Mutations in the HA20 gene have been associated with several health conditions. For example, changes in this gene have been found in individuals with congenital heart defects. Research is ongoing to understand the role of the HA20 gene in human health and disease.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
