HAPLN1
Description
The HAPLN1 (hyaluronan and proteoglycan link protein 1) is a protein-coding gene located on chromosome 5.
Hyaluronan and proteoglycan link protein 1 is a protein encoded by the HAPLN1 gene in humans. It has been shown to interact with Versican.
Stabilizes the aggregation of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
HAPLN1 is also known as CRT1, CRTL1.
Associated Diseases
- Miyoshi myopathy
- platyspondylic dysplasia, Torrance type
- spondyloperipheral dysplasia
- atelosteogenesis type II
- spondyloepimetaphyseal dysplasia with multiple dislocations
- spondylometaphyseal dysplasia, Schmidt type