YBX3

Chr 12

Y-box binding protein 3

Also known as: CSDA, CSDA1, DBPA, ZONAB

NCBI Gene: 8531 ENSG00000060138 UniProt: P16989 OMIM: 603437

YBX3 encodes a protein that binds RNA and acts as a transcriptional repressor, including repression of the GM-CSF promoter, and may be involved in translation regulation. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity, typically manifesting in early childhood. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in cellular hyperosmotic response; cellular response to tumor necrosis factor; and negative regulation of programmed cell death. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

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Mechanism