FUS/TLS Antibody – Mouse Monoclonal

This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]

hnRNP P2: Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of complementary single- stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in maintenance of genomic integrity. Component of nuclear riboprotein complexes. Interacts with ILF3, TDRD3 and SF1. Interacts through its C-terminus with SFRS13A. Interacts with OTUB1 and SARNP. Ubiquitous. Belongs to the RRM TET family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA splicing; Oncoprotein; RNA-binding; Nuclear receptor co-regulator; DNA-binding

Chromosomal Location of Human Ortholog: 16p11.2

Cellular Component: nucleoplasm; nucleus; perikaryon; perinuclear region of cytoplasm; polysome

Molecular Function: DNA binding; estrogen receptor binding; identical protein binding; ionotropic glutamate receptor binding; myosin V binding; nucleotide binding; protein binding; retinoid X receptor binding; RNA binding; thyroid hormone receptor binding; transcription coactivator activity; zinc ion binding

Biological Process: nuclear mRNA splicing, via spliceosome

Disease: Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia; Tremor, Hereditary Essential, 4