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

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

rs10770141 in MIR4686;TH gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs1372180906 in MIR4686;TH gene and Dystonia PMID 21465550 2011 Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.

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