Aliases for PLAGL1 Gene
External Ids for PLAGL1 Gene
This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010]
GeneCards Summary for PLAGL1 Gene
PLAGL1 (Pleiomorphic Adenoma Gene-Like 1) is a Protein Coding gene. Diseases associated with PLAGL1 include adenoma and diabetes mellitus, 6q24-related transient neonatal. GO annotations related to this gene include sequence-specific DNA binding RNA polymerase II transcription factor activity. An important paralog of this gene is ZNF768.
UniProtKB/Swiss-Prot for PLAGL1 Gene
Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide.