disease:Defects in CNBP are the cause of myotonic dystrophy 2 (DM2) [MIM:602668]; also known as proximal myotonic myopathy (PROMM). DM2 is an autosomal dominant neurodegenerative disorder characterized by myotonia. DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene.,function:Single stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.,similarity:Contains 7 CCHC-type zinc fingers.,tissue specificity:Present in all tissues examined.,
Nucleus . Cytoplasm . Endoplasmic reticulum .; [Isoform 1]: Cytoplasm .; [Isoform 2]: Cytoplasm .; [Isoform 4]: Cytoplasm .; [Isoform 5]: Cytoplasm .; [Isoform 6]: Cytoplasm .; [Isoform 8]: Cytoplasm .
Expressed in the liver, kidney, spleen, testis, lung, muscle and adrenal glands.
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