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]
Function:
Single stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.
Subcellular Location:
Cytoplasm. Endoplasmic reticulum.
Tissue Specificity:
Present in all tissues examined.
DISEASE:
Defects in CNBP are the cause of dystrophia myotonica type 2 (DM2) [MIM:602668]; 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. Note=The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene.
Similarity:
Contains 7 CCHSLCtype zinc fingers.
SWISS:
P62633
Gene ID:
7555
Database links:
Entrez Gene: 7555 Human
Entrez Gene: 395731 Chicken
Entrez Gene: 504831 Cow
Entrez Gene: 12785 Mouse
Entrez Gene: 64530 Rat
Entrez Gene: 399294 Xenopus laevis
Omim: 116955 Human
SwissProt: O42395 Chicken
SwissProt: Q3T0Q6 Cow
SwissProt: P62633 Human
SwissProt: P53996 Mouse
SwissProt: P62634 Rat
Unigene: 518249 Human
Unigene: 290251 Mouse
Unigene: 6187 Rat
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