RMDN1

Chr 8

regulator of microtubule dynamics 1

Also known as: CGI-90, FAM82B, RMD-1, RMD1

NCBI Gene: 51115 ENSG00000176623 UniProt: Q96DB5

The RMDN1 protein enables microtubule binding and is involved in mitotic spindle organization and kinetochore attachment during cell division. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene shows very low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq

Enables microtubule binding activity. Predicted to be involved in attachment of mitotic spindle microtubules to kinetochore and mitotic spindle organization. Located in centrosome; mitotic spindle pole; and spindle microtubule. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.27

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429