Symbol
| ZPR1
| contributors: mct - updated : 30-05-2017
|
HGNC name
| zinc finger protein 259
|
HGNC id
| 13051
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
in patients with severe SMA | constitutional
|  
|  
| --low
|  
|
causing reduced number of microtubules, responsible for axon retraction, and neurodegeneration | constitutional
|  
|  
| --low
|  
|
it is possible that the reduced ZPR1 expression observed in SMA patients may contribute to the severity of disease because the primary defect in SMA is the loss of spinal motor neurons | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Zpr1 stimulates neurite growth and rescues axonal growth defects in SMN-deficient spinal cord neurons from SMA mice |