HomeGeneticsGeneCNBP gene
Back to Gene
CNBP gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CNBP gene

The CNBP gene provides instructions for a protein that regulates gene activity and is critical for normal development, particularly of muscles.

Normal Function

The CNBP gene provides instructions for making a protein called CCHC-type zinc finger nucleic acid binding protein. This protein has seven regions, called zinc finger domains, which are thought to attach (bind) to specific sites on DNA and its chemical cousin, RNA.

The CNBP protein is found in many of the body's tissues, but it is most abundant in the heart and in muscles used for movement (skeletal muscles). The CNBP protein regulates the activity of other genes and is necessary for normal development before birth, particularly of muscles.

One region of the CNBP gene contains a segment of four DNA building blocks (nucleotides) that is repeated multiple times. This sequence, which is written as CCTG, is called a tetranucleotide repeat. In most people, the CCTG sequence is repeated fewer than 26 times.

Health Conditions Related to Genetic Changes

Myotonic dystrophy

Mutations in the CNBP gene cause a form of myotonic dystrophy known as myotonic dystrophy type 2. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. Muscle weakness in type 2 primarily involves muscles close to the center of the body (proximal muscles), such as the those of the neck, shoulders, elbows, and hips. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use.

The type of gene mutation that causes myotonic dystrophy type 2 is known as a tetranucleotide repeat expansion. This mutation increases the size of the repeated CCTG segment in the CNBP gene. People with myotonic dystrophy type 2 have from 75 to more than 11,000 CCTG repeats.

The mutated CNBP gene produces an altered version of messenger RNA, which is a molecular blueprint of the gene that guides the production of proteins. Researchers have found that the altered messenger RNA traps proteins to form clumps within the cell. The clumps interfere with the production of many other proteins. These changes prevent muscle cells and cells in other tissues from functioning properly, leading to muscle weakness and the other features of myotonic dystrophy type 2.

Other Names for This Gene

  • CCHC-type zinc finger, nucleic acid binding protein
  • cellular nucleic acid binding protein
  • cellular retroviral nucleic acid-binding protein 1
  • CNBP1
  • CNBP_HUMAN
  • DM2
  • ZCCHC22
  • zinc finger 9 protein
  • zinc finger protein 273
  • zinc finger protein 9
  • zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)
  • ZNF9

Frequently Asked Questions

repeat‑primed PCR assay that quantifies the number of CCTG tetranucleotide repeats in the CNBP gene is performed on a blood sample. The test distinguishes normal repeat numbers (<26) from expanded repeats (≥26) that are pathogenic. Confirmation may be supplemented by a Southern blot or next‑generation sequencing if the repeat size is ambiguous.
Early signs include difficulty relaxing the jaw or facial muscles after chewing, a “clenched” or “locked” feeling in the hand or foot after use, and a gradual weakness of the neck, shoulder, and hip muscles. Patients may also notice mild speech difficulties, fatigue, and occasional heart rhythm irregularities. Early recognition allows timely referral to specialists.
Women with myotonic dystrophy type 2 may experience increased risks of preterm labor, low birth weight, and cardiac complications during pregnancy. Pre‑conception counseling, regular cardiac monitoring, and close collaboration with obstetric and genetic specialists are recommended. Early delivery planning and neonatal care for potential respiratory support are also important.
Physical therapy focused on stretching and strengthening can help maintain muscle tone. Non‑steroidal anti‑inflammatory drugs (NSAIDs) or mexiletine may reduce muscle stiffness in some patients. Respiratory monitoring and the use of a CPAP machine can address breathing difficulties. A multidisciplinary team—including neurologists, cardiologists, and occupational therapists—provides coordinated care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss