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FLASH GENE

Symbol

TH

contributors: mct/npt - updated : 20-04-2020

HGNC name	tyrosine hydroxylase
HGNC id	11782

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DPDV

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in schizophrenia, bipolar disorder and alcoholism constitutional     --over   obesity-associated stimuli induce a TH upregulation in periodontal cells and tissues tumoral germinal mutation       in familial isolated pituitary adenoma

Susceptibility

to alterations in autonomic activity and blood pressure

Variant & Polymorphism SNP	common genetic variants in the proximal TH promoter, especially at C-824T and A-581G, are associated to alterations in autonomic activity and blood pressure

Candidate gene
Marker	tyrosine hydroxylase (TH) expression in peripheral blood (PB) at diagnosis in patients with neuroblastoma is a marker of worse outcome
	in high-risk metastatic Neuroblastoma, TH and DCX mRNA quantification could be used for the assessment of response to treatment and for early detection of progressive disease or relapses
Therapy target

ANIMAL & CELL MODELS