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FLASH GENE

Symbol

PDGFB

contributors: mct/ - updated : 05-11-2017

HGNC name	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)
HGNC id	8800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DFSP , BGCI5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation --other protein chimeric translocation t(17;22) (q22;q13) with chimeric proteins 5' - COL1A1 - PDGFB - 3' in meningiomas, in dermatofibrosarcoma protuberans constitutional     --low   in human venous malformations (VM) lesions constitutional       loss of function increases hepatic vascular permeability and enhances insulin sensitivity tumoral     --over   with LAMTOR5 were highly expressed in breast cancer cell lines

Susceptibility

meningiomas dermatofibrosarcoma protuberans

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed digestive liver   anti-platelet therapy or selective inhibition of PDGFB might reduce biliary fibrosis in patients with liver disease

ANIMAL & CELL MODELS

transgenic mice in which Pdgf-B was over-expressed, exhibited enhanced apoptosis in the developing corpus striatum, and in retinal progenitors results in abnormal retinal vessel formation