Gene Symbol | CNBP |
Entrez Gene ID | 7555 |
Full Name | CCHC-type zinc finger nucleic acid binding protein |
Synonyms | CNBP1,DM2,PROMM,RNF163,ZCCHC22,ZNF9 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Myotonic dystrophy 2, 602668 (3) |