CDIP1

Chr 16

cell death inducing p53 target 1

Also known as: C16orf5, CDIP, I1, LITAFL

NCBI Gene: 29965 ENSG00000089486 UniProt: Q9H305 OMIM: 610503

CDIP1 encodes a protein that acts as a p53-apoptotic effector, regulating TNF-mediated apoptosis and intrinsic apoptotic signaling in response to DNA damage. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures and developmental delays. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable zinc ion binding activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator. Located in cytoplasmic side of late endosome membrane; cytoplasmic side of lysosomal membrane; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.45

Clinical Summary— CDIP1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.87) — some intolerance to loss-of-function variants.

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