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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FSHD2 , BAMS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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 8–10 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