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FLASH GENE

Symbol

TGFB3

contributors: mct - updated : 27-09-2021

HGNC name	transforming growth factor, beta 3
HGNC id	11769

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ARVD1 , LDS5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in chondrosarcomas tumoral     --over   in Glioblastoma

Susceptibility

to nonsyndromic cleft lip with or without cleft palate to ossification of the posterior longitudinal ligament of the spine to male infertility to gestational diabetes mellitus (GDM)

Variant & Polymorphism SNP	increasing the risk of ossification of the posterior longitudinal ligament of the spine
	polymorphisms increasing the risk of nonsyndromic cleft lip with or without cleft palate
	heterozygous rs2284792 AG genotype was associated with increased odds for infertility
	AA and AG genotype of TGFB3 rs2284792 polymorphism may be significantly associated with increased risk of GDM

Candidate gene	to nonsyndromic cleft lip with or without cleft palate
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma targeting TGFB3 may represent a promising strategy interfering with aberrant TGFB signaling in glioblastoma

ANIMAL & CELL MODELS

	abnormal limb development and cleft palate in mice lacking TGFB3
	Tgf-beta3 null mutant palates of two strains of mice (C57/BL/6J (C57), and MF1) that develop cleft palates of different severity