Symbol
| AIMP1
| contributors: mct - updated : 05-07-2017
|
HGNC name
| aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
HGNC id
| 10648
|
corresponding disease(s)
|
PMLD3
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
resulting in the dramatic reduction of plasma gucagon levels, and inducing pancreatic secretion of glucagon for blood glucose homeostasis | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Mice lacking MSC p43 exhibited axon degeneration in motor neurons, defective neuromuscular junctions, muscular atrophy, and motor dysfunction |