MIR204 Chromosome 9

MicroRNA 204
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
MicroRNA MIR204/211 family
Locus Type
RNA, micro
Location
9q21.12
Ensembl
ENSG00000207935
Associated Conditions (1)
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS767146880 Health Risk Pathogenic Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome, Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
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