CSDE1

Chr 1

cold shock domain containing E1

Also known as: D1S155E, UNR

NCBI Gene: 7812 ENSG00000009307 UniProt: O75534

The CSDE1 protein is an RNA-binding protein that regulates mRNA stability and translation, and is required for stress granule formation during cellular stress. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, developmental delay, and variable features including seizures and behavioral abnormalities. This gene is highly constrained against loss-of-function variants in the population, indicating that such mutations are likely to be pathogenic.

ResearchSummary from RefSeq, UniProt

Enables RISC complex binding activity; RNA stem-loop binding activity; and lncRNA binding activity. Involved in IRES-dependent viral translational initiation; regulation of gene expression; and stress granule assembly. Located in Golgi apparatus; cytosol; and plasma membrane. Part of CRD-mediated mRNA stability complex and mCRD-mediated mRNA stability complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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