SAMD11

Chr 1

sterile alpha motif domain containing 11

Also known as: MRS

NCBI Gene: 148398 ENSG00000187634 UniProt: Q96NU1

SAMD11 encodes a component of a Polycomb repressive complex (PRC1) that silences non-rod gene expression to establish rod photoreceptor cell identity and function during retinal development. Mutations cause autosomal recessive retinal dystrophy with early childhood onset, leading to progressive vision loss. The gene shows minimal constraint against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and retinal rod cell development. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa

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)

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P/LP submissions

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P/LP missense

1.28

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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