LRFN5 Antibodies, cDNA Clones Research Reagents

LRFN5 (Leucine-Rich Repeat And Fibronectin Type III Domain Containing 5, also known as SALM5; FIGLER8; C14orf146), located on 14q21.1, is a Protein Coding gene. The gene encodes a protein involved in synaptic plasticity and is implicated in neuropsychiatric disorders. It belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. The human LRFN5 contains an N-terminal signal peptide, followed by a leucine-rich repeat, immunoglobulin-like (Ig) domain, fibronectin type III (Fn) domain, and a C-terminal transmembrane domain.

LRFN5 Antibody (1)

    LRFN5 cDNA Clone (13)

    BC043165

    クローニングベクター cDNA 製品

    In lentiviral vector

    LRFN5 qPCR Primer (1)

    LRFN5 の背景知識

    The deletion affects a gene desert, and the non-deleted gene closest to the microdeletion boundaries is LRFN5, which encodes a protein involved in synaptic plasticity and is implicated in neuropsychiatric disorders. LRFN5 expression was significantly decreased in the proband's skin fibroblasts. The deleted region includes the pseudogene chr14.232.a, which is transcribed into a long non-coding RNA (lncLRFN5-10), whose levels were also significantly reduced in the proband's fibroblasts compared to controls. Transfection of the patient's fibroblasts with a plasmid expressing chr14.232.a significantly increased LRFN5 expression, while siRNA targeting chr14.232.a-derived lncLRFN5-10 reduced LRFN5 levels. In the patient fibroblasts, LRFN5 expression was 10-fold reduced compared to LRFN5 expressed in control fibroblasts. At the LRFN5 promoter, there was a distinct peak of trimethylated histone H3 lysine 27 (H3K27M3)-associated DNA in addition to a diminished trimethylated histone H3 lysine 4 (H3K4M3) level.

    LRFN5 の参考文献

    • de Bruijn DR, et al. (2010) Severe progressive autism associated with two de novo changes: A 2.6-mb 2q31.1 deletion and a balanced t(14;21)(q21.1;p11.2) translocation with long-range epigenetic silencing of lrfn5 expression. Mol Syndromol 1 (1): 46-57.
    • Cappuccio G, et al. (2019) Microdeletion of pseudogene chr14.232.A affects lrfn5 expression in cells of a patient with autism spectrum disorder. Eur J Hum Genet 27 (9): 1475-1480.

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