Gene: LOC105371722

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: NF1

Alternate names for this Gene: NFNS|VRNF|WSS

Gene Summary: This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2

Description of this Gene: neurofibromin 1

Type of Gene: protein-coding

Gene: MIR4733

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: 17

Location in Chromosome : 17q11.2

Description of this Gene: microRNA 4733

Type of Gene: ncRNA

rs876658658 in LOC105371722;NF1;MIR4733 gene and Neoplastic Syndromes, Hereditary PMID 15523626 2004 Functional analysis of polymorphic variation within the promoter and 5' untranslated region of the neurofibromatosis type 1 (NF1) gene.

rs1060500252 in LOC105371722;NF1;MIR4733 gene and Neurofibromatosis 1 PMID 23913538 2013 NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

PMID 23668869 2013 Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 10712197 2000 Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.