ATXN7L3

Chr 17AD

ataxin 7 like 3

Also known as: HATONS, SGF11

NCBI Gene: 56970 ENSG00000087152 UniProt: Q14CW9 OMIM: 619010

The ATXN7L3 protein is a component of the SAGA transcriptional regulatory complex that enables histone deubiquitination and chromatin remodeling to activate gene transcription. Mutations cause autosomal recessive cone-rod dystrophy, a progressive retinal degeneration affecting both cone and rod photoreceptors. This gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables transcription coactivator activity. Involved in positive regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Located in nucleus. Part of DUBm complex and SAGA complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Harel-Tora neurodevelopmental syndromeMIM #621377

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.20

LOEUF· LoF intol.

LOF

Mechanism· G2P