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FLASH GENE

Symbol

TGFB1

contributors: mct/shn - updated : 03-07-2018

HGNC name	transforming growth factor, beta 1
HGNC id	11766

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DPD1

Other morbid association(s)

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

Susceptibility

to atherosclerosis to progressive diabetic nephropathy with hypertension, hypertensive complications to diabetic retinopathy to obesity ( to chronic obstructive pulmonary disease by cigarettes smockers stimulates fibrosis in Duchenne muscular dystrophy ( a key determinants of carcinoma cell behavior ( TGF-beta hyperresponsiveness observed in scleroderma ( Circulating TGF-beta1 concentrations are elevated in Marfan syndrome ( increased TGF-beta1 has been found in the central nervous system of patients with Alzheimer's disease, and may be a risk factor for developing Alzheimer's disease(

Variant & Polymorphism SNP , other	R25P
	SNP in the promoter region increasing the risk of chronic obstructive pulmonary disease by cigarettes smockers
	CC homozygote in codon 10 are at higher risk of developing high myopia
	a modifier of Cystic fibrosis lung disease (

Candidate gene	could be a modifier gene in cystic fibrosis (codon 10 CC genotype)
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone others modulation of TGF-beta1 activity could be an effective treatment for bone remodeling diseases cardiovascular     TGFB signaling pathway as the primary pharmacological target for the development of new treatment strategies for arterial wall anomalies and osteoarthritis dermatology skin   targeting TGFB1 downstream via the profibrotic mediator NOX4 could be a potential anti-fibrotic therapy respiratory lung   treatments with both PDGFA and TGFB1 antagonists may result in a better anti-fibrotic outcome for acute lung injury (ALI)-induced lung fibrosis

ANIMAL & CELL MODELS

	TGF-beta1 induces amyloid-beta deposition in cerebral blood vessels and meninges of aged transgenic mice overexpressing this cytokine from astrocytes (
	overexpression of TGF-beta1 may initiate or promote amyloidogenesis in Alzheimer's disease (
	Transgenic mice overexpressing a constitutively active human TGF-beta1 developed fibrosis of the liver, kidney, and adipose tissue, and exhibited a severe reduction in body fat (
	transgenic mice that overexpress active TGF-beta1 predominantly in the odontoblasts show a significant reduction in the tooth mineralization, defective dentin formation, and a relatively high branching of dentinal tubules (
	Tgfb1(-/-) survival to birth, in addition to dependence on embryonic Tgfbkm2 genotype, also depends on maternal effects (
	lack of TGF-beta1 expression in neonatal Tgfb1(-/-) mice results in a widespread increase in degenerating neurons accompanied by reduced expression of synaptophysin and laminin and a prominent microgliosis (
	TGF-beta1 deficiency in adult Tgfb1(-/+) mice results in increased neuronal susceptibility to excitotoxic injury (
	transgenic mice expressing wild-type TGFbeta1 in the epidermis developed inflammatory skin lesions, with gross appearance of psoriasis-like plaques, generalized scaly erythema, and Koebner's phenomenon (
	increased TGF-beta signaling may contribute to the multisystem pathogenesis of mitral valve prolapse, including the development of myxomatous changes of the atrioventricular valves (
	Specific inactivation of TGFbeta signaling in neural crest stem cells results in cardiovascular defects and thymic, parathyroid, and craniofacial anomalies (
	aortic aneurysm in a mouse model of Marfan syndrome is associated with increased TGF-beta signaling (
	male Tgfb1 null mice demonstrate complete inability to mate with females, associated with failure to initiate and/or sustain successful penile intromission or ejaculation
	mice carrying a Camurati-Engelmann disease-derived mutant TGFB1 show progressive diaphyseal dysplasia (