MBD5

Methyl-CpG binding domain protein 5

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000204406
OMIM:: 611472

Phenotypes

Human ciliopathy phenotype:: Severe epilepsy and intellectual disability associated with MBD5 disruption.

Ciliopathy associations

Intellectual Developmental Disorder with Epilepsy

References: PMID:37628781

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:37628781

Function

MBD5 haploinsufficiency disrupts primary cilium-related processes during early cortical development. Patient-derived neural progenitor cells show decreased length and number of primary cilia (Martins et al. 2023, PMID 37628781).

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