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

Gene: MIR4686

Alternate names for this Gene: -

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: microRNA 4686

Type of Gene: ncRNA

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.