Gene: MIR4260
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: 1
Location in Chromosome : 1q32.2
Description of this Gene: microRNA 4260
Type of Gene: ncRNA
Gene: LAMB3
Alternate names for this Gene: AI1A|BM600-125KDA|LAM5|LAMNB1
Gene Summary: The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene.
Gene is located in Chromosome: 1
Location in Chromosome : 1q32.2
Description of this Gene: laminin subunit beta 3
Type of Gene: protein-coding
rs146794392 in
MIR4260;LAMB3 gene and
Herlitz Disease
PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
PMID 8824879 1996 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
PMID 9160387 1997 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
PMID 21801158 2011 Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.