Cellular Nucleic Acid Binding Protein (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 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 2008]

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: Transcription factor; RNA-binding; DNA-binding

Chromosomal Location of Human Ortholog: 3q21

Cellular Component: endoplasmic reticulum; nucleus; cytosol

Molecular Function: protein binding; single-stranded RNA binding; zinc ion binding; transcription factor activity; single-stranded DNA binding

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

Disease: Myotonic Dystrophy 2