CDC123

Chr 10

cell division cycle 123

Also known as: C10orf7, D123

NCBI Gene: 8872 ENSG00000151465 UniProt: O75794

The CDC123 protein functions as an ATP-dependent chaperone that facilitates assembly of the eIF2 translation initiation complex by binding to its gamma subunit and enabling proper association with the alpha and beta subunits. Mutations in CDC123 cause autosomal recessive developmental and epileptic encephalopathy with severe developmental delay, infantile spasms, and microcephaly. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

Enables ATP binding activity and magnesium ion binding activity. Involved in eukaryotic translation initiation factor 2 complex assembly. Located in cytoplasm. [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

0.81

LOEUF

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Mechanism

Some data sources returned errors (1)