SDAD1

Chr 4

SDA1 domain containing 1

Also known as: Sda1

NCBI Gene: 55153 ENSG00000198301 UniProt: Q9NVU7

The SDAD1 protein is required for export of 60S pre-ribosomal subunits from the nucleus to the cytoplasm, functioning in ribosomal large subunit biogenesis. Mutations cause autosomal recessive intellectual disability with microcephaly, short stature, and distinctive facial features. The gene shows minimal constraint against loss-of-function variants based on population data.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in ribosomal large subunit biogenesis and ribosomal large subunit export from nucleus. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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