Aliases for PLAGL1 Gene
External Ids for PLAGL1 Gene
Previous GeneCards Identifiers for PLAGL1 Gene
This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
GeneCards Summary for PLAGL1 Gene
PLAGL1 (PLAG1 Like Zinc Finger 1) is a Protein Coding gene. Diseases associated with PLAGL1 include Transient Neonatal Diabetes Mellitus and Neonatal Diabetes. Among its related pathways are Gene Expression and TP53 Regulates Transcription of Cell Cycle Genes. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity, RNA polymerase II-specific and DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is PLAGL2.
UniProtKB/Swiss-Prot Summary for PLAGL1 Gene
Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.