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FLASH GENE

Symbol

SMO

contributors: mct/pgu - updated : 28-08-2020

HGNC name	smoothened homolog (Drosophila)
HGNC id	11119

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CJS , PHLS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in basal cell carcinoma (BCC) of the skin tumoral       gain of function by somatic mutation in sporadic nevoid basal cell carcinoma syndrome (NBCCS) and primitive neuroectodermal tumors genes (HOX,BMP..) tumoral         loss of SMO impairs haematopoietic stem cell renewal and decreases induction of chronic myelogenous leukemia by the BCR-ABL1 oncoprotein tumoral     --other   constitutively active SMO augments CML stem cells and accelerate disease tumoral somatic mutation       in meningiomas tumoral     --over   is a mechanism for the activation of Hedgehog signaling in human pancreatic cancer-associated stromal fibroblasts tumoral     --low   by promoter methylation in colorectal cancer patients constitutional germinal mutation       in a patient with both anterior segment dysgenesis (congenital corneal opacity, cataract) and morning glory syndrome

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive pancreas stromal cells may be a therapeutic target for SMO antagonists in pancreatic cancer cancer brain   acquired mutations in SMO can serve as a mechanism of drug resistance in human cancer (in medulloblastoma) cancer bone   inactivation of SMO may be a useful approach to the treatment of patients with osteosarcoma

ANIMAL & CELL MODELS

Smo-/-mutant have developmental defects with failure to turn,arresting at stages with a small heart tube,an open gut and cyclopia