CUL4A

Chr 13

cullin 4A

NCBI Gene: 8451 ENSG00000139842 UniProt: Q13619

CUL4A encodes a scaffold protein that serves as the core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes, which target specific proteins for degradation and regulate processes including DNA repair, cell cycle progression, and circadian rhythms. Mutations cause X-linked intellectual disability with growth retardation and malformations in males, with an X-linked inheritance pattern. The gene is highly intolerant to loss-of-function variants, reflecting its essential cellular functions.

ResearchSummary from RefSeq, UniProt

CUL4A is the ubiquitin ligase component of a multimeric complex involved in the degradation of DNA damage-response proteins (Liu et al., 2009 [PubMed 19481525]).[supplied by OMIM, Oct 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.12

LOEUF· LoF intol.

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429