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Summary Expression Expr. PhenotypesPheno. Gene Literature (3)Lit. (3) GO Terms (30)GO (30) Nucleotides (173)Nucl. (173) Proteins (45)Prot. (45) Interactants (154)Interact. (154) Wiki
XB-GENEPAGE-968671
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 smchd1

???displayGene.name???: 
structural maintenance of chromosomes flexible hinge domain containing 1

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LOC108695257 ( Nomenclature history )

AI Protein Function :
smchd1 is a nuclear chromatin remodeling protein that acts as a transcriptional repressor, mediating epigenetic silencing through maintenance of DNA methylation and participation in X‑chromosome inacti...[+]


InterPro :
HATPase C sf, SMC hinge, SMC hinge sf, SMCHD1

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Diseases: 


Disease Ontology:
facioscapulohumeral muscular dystrophy [+]

MIM:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2 [+]

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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