GZF1

Chr 20

GDNF inducible zinc finger protein 1

Also known as: JLSM, ZBTB23, ZNF336

NCBI Gene: 64412 ENSG00000125812 UniProt: Q9H116

GZF1 encodes a transcriptional repressor that binds specific DNA sequences to negatively regulate RNA polymerase II-mediated transcription, including regulation of VSX2/HOX10 expression. Biallelic mutations cause an autosomal recessive disorder characterized by joint laxity, short stature, and myopia. The gene shows tolerance to loss-of-function variants in the general population (pLI 0.002, LOEUF 0.646).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoint laxity, short stature, and myopia

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.65

LOEUF

LOF

Mechanism· G2P

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GeneReview available — GZF1