MRE11

MRE11 homolog, double strand break repair nuclease

Tier: Cilia-Associated Genes

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 screens)

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

References: PMID:10612394, PMID:11371508, PMID:38888340, PMID:33531947, PMID:29170652

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:22863007

Functional category

Ciliary assembly/disassembly

Function

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

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