CFAP36
Description
The CFAP36 (cilia and flagella associated protein 36) is a protein-coding gene located on chromosome 2.
This protein may act as an effector for ARL3, a protein involved in cilia and flagella function.
CFAP36 is also known as BARTL1, CCDC104.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
