Symbol
| MACF1
| contributors: mct/npt - updated : 30-08-2018
|
HGNC name
| microtubule-actin crosslinking factor 1
|
HGNC id
| 13664
|
corresponding disease(s)
|
LDHCC
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
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causes a novel myopathy genetic disease | constitutional
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|  
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| loss of function
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abolishes ciliogenesis and disrupts apicobasal polarity establishment in the retina | |
Variant & Polymorphism
|
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Candidate gene
| ZFHX3, MACF1, RBM15, and SETD2 are Orofacial cleft candidate risk genes |
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
cancer | | | |
potential target to enhance the efficacy of therapeutic treatment modalities in cancers | cancer | brain | glioma/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 |
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