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FLASH GENE
Symbol MACF1 contributors: mct/npt - updated : 30-08-2018
HGNC name microtubule-actin crosslinking factor 1
HGNC id 13664
ASSOCIATED DISORDERS
corresponding disease(s) LDHCC
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
causes a novel myopathy genetic disease
constitutional       loss of function
abolishes ciliogenesis and disrupts apicobasal polarity establishment in the retina
Susceptibility
Variant & Polymorphism
Candidate gene
  • ZFHX3, MACF1, RBM15, and SETD2 are Orofacial cleft candidate risk genes
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    potential target to enhance the efficacy of therapeutic treatment modalities in cancers
    cancerbrainglioma/neuroblstoma
    potential as a unique biomarker that can be targeted synergistically with TMZ as part of a combinatorial therapeutic approach for the treatment of genetically multifarious glioblastomas
    ANIMAL & CELL MODELS