MIR184 Chromosome 15

MicroRNA 184
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 target mRNAs. This microRNA represents the most abundant miRNA in the corneal and lens epithelia of the eye and has been shown to interfere with target binding by another miRNA, miR-205. Through regulation of the VEGF and Akt signaling pathways, this microRNA may inhibit corneal angiogenesis. Mutations in the seed region of this microRNA cause familial keratoconus with cataract, also known as EDICT syndrome. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
MicroRNAs
Locus Type
RNA, micro
Location
15q25.1
Ensembl
ENSG00000207695
Associated Conditions (1)
EDICT syndrome
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS2141170209 Health Risk Pathogenic EDICT syndrome, EDICT syndrome
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