Variant: rs549435434 

    present in Gene: TH;MIR4686
    present in Chromosome: 11
    Position on Chromosome: 2171857
    Alleles of this Variant: G/A

rs549435434 in TH;MIR4686 gene and DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) PMID 17696123 2007 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

PMID 25910213 2015 Human gene-centered transcription factor networks for enhancers and disease variants.

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

PMID 17698383 2007 A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.

PMID 9235905 1997 Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription.