MRE11

MRE11 homolog, double strand break repair nuclease

Ensembl:
ENSG00000020922
UniProt:
P49959
OMIM:
600814
Synonyms:
ATLD, MRE11A

Cilia effects upon perturbation of MRE11

Loss-of-function effect:
Abnormal / altered cilia

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
ataxia-telangiectasia-like disorder

Ciliopathy associations

  • Ataxia-Telangiectasia-like Disorder

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly

Function

3 NPHP-RC genes, MRE11, ZNF423, and CEP164, which together suggest involvement of a D damage response (DDR) sig ling pathway in NPHP-RC pathogenesis ( 22863007).

Model organism evidence

Danio rerio (1 reference)

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMIDs: 22863007