C1RL
Description
The C1RL (complement C1r subcomponent like) is a protein-coding gene located on chromosome 12.
C1RL mediates the proteolytic cleavage of HP/haptoglobin within the endoplasmic reticulum.
C1RL is also known as C1RL1, C1RLP, C1r-LP, CLSPa.
Associated Diseases
- hip dysplasia, Beukes type
- Blount disease
- coxopodopatellar syndrome
- acromesomelic dysplasia 2C, Hunter-Thompson type
- mesomelic dysplasia, Savarirayan type
- familial clubfoot due to 17q23.1q23.2 microduplication
- acromesomelic dysplasia 2B
- multiple epiphyseal dysplasia type 5
- osteopathia striata-pigmentary dermopathy-white forelock syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- metaphyseal dysplasia without hypotrichosis
- multiple epiphyseal dysplasia due to collagen 9 anomaly
