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FLASH GENE
Symbol MAD2L1 contributors: mct/ - updated : 01-06-2018
HGNC name MAD2 mitotic arrest deficient-like 1 (yeast)
HGNC id 6763
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in maternal age-related aneuploidy
tumoral     --over  
in ductal breast carcinoma
constitutional       loss of function
loss of spindle assembly checkpoint proteins, such as BUB1 and MAD2L1, may cause spontaneous miscarriages
constitutional     --low  
reduced MAD2L1 levels attenuate the apoptotic response to mis-segregating sex chromosomes and allow the formation of aneuploid sperm
tumoral     --over  
of CDC20 and MAD2L1 is related to poor prognosis of urothelial bladder cancer
Susceptibility to lung cancer
Variant & Polymorphism other genetic variants in MAD2L1 confer susceptibility to lung cancer, which might result from reduced spindle checkpoint function due to attenuated function of MAD2L1
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS