PLEKHH1
Description
The PLEKHH1 (pleckstrin homology, MyTH4 and FERM domain containing H1) is a protein-coding gene located on chromosome 14.
PLEKHH1 is also known as -.
Associated Diseases
- Parkinson disease
- 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
