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.
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Protein Aliases: Lost on transformation 1; LOT-1; LOT1; PLAG-like 1; pleiomorphic adenoma gene-like 1; Pleiomorphic adenoma-like protein 1; Tumor suppressor ZAC; ZAC; ZAC1; Zinc finger protein PLAGL1
Gene Aliases: LOT1; PLAGL1; ZAC; ZAC1
UniProt ID: (Human) Q9UM63
Entrez Gene ID: (Human) 5325