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FLASH GENE

Symbol

SMAD5

contributors: mct/npt - updated : 28-08-2013

HGNC name	SMAD family member 5
HGNC id	6771

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in leukemia constitutional       loss of function deficiency in the SMAD5-mediated signaling resulted in apoptosis of hair cells, suggesting SMAD5 is a gene that may be related with presbycusis (Yang 2009)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

lack of Madh5,(Smad5) expression in mice results in bilateral Nodal expression in lateral plate mesoderm (LPM),embryonic lethality no turning