SAMD1

Chr 19

sterile alpha motif domain containing 1

NCBI Gene: 90378 ENSG00000141858 UniProt: Q6SPF0 OMIM: 620206

The protein binds to unmethylated CpG islands and acts as a transcriptional repressor by recruiting histone-modifying complexes to regulate chromatin structure. Biallelic mutations in SAMD1 cause a severe neurodevelopmental disorder with early infantile onset characterized by intellectual disability, seizures, and brain malformations. This gene follows autosomal recessive inheritance and shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Enables chromatin binding activity. Involved in negative regulation of transcription initiation-coupled chromatin remodeling and protein homooligomerization. Is active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.67

LOEUF

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Mechanism