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 Diabetes Mellitus, Transient Neonatal, 1 and Paternal Uniparental Disomy Of Chromosome 6. Among its related pathways are Gene Expression and Aryl Hydrocarbon Receptor. GO annotations related to this gene include RNA polymerase II transcription factor activity, sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding. An important paralog of this gene is PLAG1.
UniProtKB/Swiss-Prot for PLAGL1 Gene
Shows weak transcriptional activatory activity. Transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide.