ZFPL1
Description
The ZFPL1 (zinc finger protein like 1) is a protein-coding gene located on chromosome 11.
ZFPL1 is crucial for maintaining the structural integrity of the cis-Golgi, a key organelle in the protein transport pathway. It plays a role in ensuring efficient movement of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. ZFPL1 likely achieves this by interacting with the GOLGA2/GM130 protein, which is also involved in cis-Golgi structure.
ZFPL1 is also known as D11S750, MCG4.
Associated Diseases
- pachyonychia congenita
- optic atrophy 2
- X-linked dystonia-parkinsonism
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 20
- torsion dystonia 2
- X-linked retinal dysplasia
- isolated dystonia
- spinocerebellar ataxia type 15/16
- severe early-childhood-onset retinal dystrophy
- leukoencephalopathy with mild cerebellar ataxia and white matter edema
- tremor, hereditary essential, 6
- infantile-onset generalized dyskinesia with orofacial involvement
- torsion dystonia 7
