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PLAGL1

Chr 6q24.2

PLAG1 like zinc finger 1

Aliases:
ZAC, LOT1
MANE:
ENST00000674357.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Multi locus imprinting disorders

    MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Disease associations (Open Targets)

  • transient neonatal diabetes mellitus

    0.48
  • neurodegenerative disease

    0.35
  • adult onset asthma

    0.29
  • alcohol drinking

    0.27
  • stroke disorder

    0.27
  • protozoa infectious disease

    0.26
  • radiation injury

    0.25
  • myoepithelial tumor

    0.11
  • neoplasm

    0.10
  • glioblastoma

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein PLAGL1

Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.