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FLASH GENE
Symbol MYLK contributors: mct - updated : 24-08-2017
HGNC name myosin light chain kinase
HGNC id 7590
ASSOCIATED DISORDERS
corresponding disease(s) TAAD8 , MMIH3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    neurosensorialvisualanterior chamber
    may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the optic nerve head
    ANIMAL & CELL MODELS