PLAGL1 : PLAG1 like zinc finger 1

Description

The PLAGL1 (PLAG1 like zinc finger 1) is a protein-coding gene located on chromosome 6.

The PLAGL1 gene provides instructions for making a zinc finger protein, which is involved in various cellular functions. These proteins bind primarily to DNA, regulating gene expression by turning them on or off as needed. PLAGL1 plays a crucial role in cell cycle regulation, apoptosis, and fetal growth. It helps control the PACAP1 protein, which stimulates insulin secretion, thereby regulating glucose levels in the blood. PLAGL1 is a paternally expressed imprinted gene, meaning only the paternal copy is active, while the maternal copy is silenced by methylation.

PLAGL1 is also known as LOT1, ZAC, ZAC1.

Associated Diseases

• Paternal uniparental disomy of chromosome 6
• Transient neonatal diabetes mellitus
• 6q24-related transient neonatal diabetes mellitus