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FLASH GENE

Symbol

LDB3

contributors: mct/npt - updated : 25-06-2015

HGNC name	LIM domain binding 3
HGNC id	15710

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1C , MFMZ

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   aberrant splicing of LDB3 exon 11 in DM1 skeletal muscle

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	cardiac-specific knockout of Cypher in mouse leads to severe cardiac dysfunction, including DCM and premature lethality from heart failure, with disrupted cellular architecture and altered activities of multiple cellular signaling pathways (Zheng 2009)
	Cypher global-null mice display postnatal death with cardiac and skeletal muscle defects