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FLASH GENE

Symbol

KDM6A

contributors: mct - updated : 18-03-2015

HGNC name	lysine (K)-specific demethylase 6A
HGNC id	12637

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

KMS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       inactivating somatic mutations, pointing to H3Lys methylation deregulation in multiple tumor types (Van Haaften 2009) constitutional   translocation     with haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     KDM6A reintroduction into cancer cells with inactivating mutations resulted in slowing of proliferation and marked transcriptional changes

ANIMAL & CELL MODELS

	Utx-null embryos had reduced somite counts, neural tube closure defects and heart malformation that presented between E9.5 and E13.5
	male Utx-null mice escape embryonic lethality due to expression of UTY, a paralog that lacks H3K27 demethylase activity, suggesting an enzyme-independent role for UTX in development and thereby challenging the need for active H3K27 demethylation