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FLASH GENE

Symbol

SKI

contributors: mct/shn - updated : 02/02/2013

HGNC name	v-ski sarcoma viral oncogene homolog (avian)
HGNC id	10896

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL1P36 , SGS2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in facial clefting (and/or neural tube defect) tumoral     --over   in a variety of human cancers, including melanoma, leukemia, colorectal, pancreatic, esophageal, and gastric cancers

Susceptibility

to orofacial defect

Variant & Polymorphism SNP	(257C>G)associated with a decreased risk for orofacial defects

Candidate gene	for facial clefting in 1p36 deletion
Marker
Therapy target

ANIMAL & CELL MODELS

	defects in neurulation, craniofacial, patterning, and skeletal muscle development in ski -/- mice
	ski-deficient heterozygous mice display susceptibility to tumorigenesis
	Ski-deficient callosal neurons lose their identity and ectopically express the transcription factor Ctip2
	Ski-/- mice display a lethal phenotype with associated midline facial cleft, a depressed nasal bridge, eye anomalies, skeletal muscle defects, and digital anomalies