Symbol
| MYLK
| contributors: mct - updated : 24-08-2017
|
HGNC name
| myosin light chain kinase
|
HGNC id
| 7590
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
in aortic dissection | |
Susceptibility
|
to familial thoracic aortic aneurysms leading to acute aortic dissections to acute lung injury (ALI) and asthma |
Variant & Polymorphism
other
| heterozygous loss-of-function mutations in MYLK are associated with aortic dissections |
|
SNPs (P21H, S147P, V261A) alter the N-terminal amino acid sequence of the non-muscle isoform of MLCK (nmMLCK) and are highly associated with susceptibility to acute lung injury (ALI) and asthma |
|
|
Candidate gene
Marker
| hypermethylated BRINP3 and MYLK can be used as potential biomarkers for diagnosis and pre-warning of gastric cancer | Therapy target
| |
|
System | Type | Disorder | Pubmed |
neurosensorial | visual | anterior chamber | |
may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the optic nerve head |
| |