PLAGL1

Chr 6

PLAG1 like zinc finger 1

Also known as: LOT1, ZAC, ZAC1

NCBI Gene: 5325 ENSG00000118495 UniProt: Q9UM63

This gene encodes a zinc finger transcriptional activator that suppresses cell growth and is subject to paternal imprinting. Mutations cause transient neonatal diabetes mellitus, which typically presents in the first weeks of life and often resolves by 18 months of age. The gene is highly constrained against loss-of-function variants, and the condition follows an imprinted inheritance pattern with preferential expression from the paternal allele.

GeneReviews ResearchSummary from RefSeq, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDiabetes mellitus, transient neonatal, 1

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — PLAGL1