FRMD5

Chr 15AD

FERM domain containing 5

Also known as: NEDEMA

Enables integrin binding activity and protein kinase binding activity. Involved in negative regulation of cell motility; positive regulation of cell adhesion; and regulation of cell migration. Located in adherens junction. Implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with eye movement abnormalities and ataxiaMIM #620094
AD
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FRMD5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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