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FLASH GENE
Symbol SMCHD1 contributors: mct - updated : 11-06-2019
HGNC name structural maintenance of chromosomes flexible hinge domain containing 1
HGNC id 29090
ASSOCIATED DISORDERS
corresponding disease(s) FSHD2 , BAMS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in many types of human hematopoietic malignancy
constitutional germinal mutation      
have also been reported as modifiers of disease severity in FSHMD1A-affected families with alleles of 810 D4Z4 units
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • in mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance