SEPHS1

Chr 10AD

selenophosphate synthetase 1

Also known as: SELD, SPS, SPS1, VERBRAS2

NCBI Gene: 22929 ENSG00000086475 UniProt: P49903 OMIM: 600902

This protein functions as a core component of the zincore complex that stabilizes zinc finger transcription factors at DNA-binding sites to control gene expression, and plays an essential role in cellular redox homeostasis. Mutations cause Ververi-Brady syndrome 2, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ververi-Brady syndrome 2MIM #621325

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.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

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted