Gene: TH

Alternate names for this Gene: DYT14|DYT5b|TYH

Gene Summary: The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: tyrosine hydroxylase

Type of Gene: protein-coding

rs3842727 in TH gene and Autoantibody measurement PMID 29310926 2018 Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.

rs2070762 in TH gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs3842727 in TH gene and Carrier status PMID 29310926 2018 Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.

rs1057517423 in TH gene and DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) PMID 22264700 2012 Tyrosine hydroxylase deficiency in Taiwanese infants.

PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

PMID 27934587 2016 Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.

PMID 11196107 2000 Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.

PMID 9703425 1998 A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

PMID 21940685 2012 A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

PMID 22815559 2012 Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.

PMID 8528210 1995 Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.

PMID 17696123 2007 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

PMID 10585338 1999 Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

PMID 18058633 2007 Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

PMID 9613851 1998 Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.

PMID 15747353 2005 Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.

PMID 7814018 1995 A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

PMID 16049992 2005 Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

PMID 24753243 2014 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

PMID 11246459 2000 Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

PMID 8817341 1996 Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

PMID 15505183 2004 Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.

PMID 20056467 2010 Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

PMID 23762320 2013 GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PMID 20198643 2010 Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.

PMID 23480488 2013 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 28087438 2017 Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

PMID 11160968 2001 Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 25224241 2014 [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia].

rs10743152 in TH gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

PMID 29310926 2018 Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort.

rs4072825 in TH gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 31324766 2019 ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response.

PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121917763 in TH gene and Dystonia PMID 8817341 1996 Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.

PMID 19282209 2009 Tyrosine hydroxylase deficiency with severe clinical course.

PMID 2019643 1991 Magnetic stimulation of the nervous system.

PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PMID 23480488 2013 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.

PMID 12891655 2003 Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.

PMID 24753243 2014 Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

PMID 22264700 2012 Tyrosine hydroxylase deficiency in Taiwanese infants.

PMID 28087438 2017 Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

PMID 20056467 2010 Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.

PMID 9703425 1998 A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.

PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

PMID 10407773 1999 A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).

PMID 26276013 2015 Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

PMID 20492352 2010 Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.

rs1554923218 in TH gene and Movement Disorders PMID 20823027 2011 Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.

PMID 20430833 2010 Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.

PMID 24696406 2014 What is new for monoamine neurotransmitter disorders?