CGREF1
Description
The CGREF1 (cell growth regulator with EF-hand domain 1) is a protein-coding gene located on chromosome 2.
CGREF1 mediates cell-cell adhesion in a calcium-dependent manner, similar to other proteins with EF-hand domains. It also exhibits growth inhibitory properties in various cell lines.
CGREF1 is also known as CGR11.
Associated Diseases
- essential fructosuria
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- uncombable hair syndrome
- metabolic myopathy due to lactate transporter defect
- Griscelli syndrome type 3
- hypotrichosis simplex