Cellular Nucleic Acid (CNBP) Human Recombinant Protein

This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]

ZNF9: Single stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression. Defects in CNBP are the cause of dystrophia myotonica type 2 (DM2); also known as proximal myotonic myopathy (PROMM). A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; RNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 3q21.3

Cellular Component: cytosol; endoplasmic reticulum; nucleus

Molecular Function: protein binding; RNA binding; transcription factor activity

Biological Process: cholesterol biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of transcription, DNA-dependent

Disease: Myotonic Dystrophy 2