OPA10

Chr 6AR

reticulon 4 interacting protein 1

Also known as: NIMP, OPA10, Yim1

The protein is localized to mitochondria and interacts with reticulon 4, which inhibits neurite growth following spinal cord injury. Mutations cause optic atrophy 10 with or without ataxia, intellectual disability, and seizures through autosomal recessive inheritance. This condition affects both the visual system and can involve broader neurological manifestations including movement and cognitive impairments.

Summary from RefSeq, OMIM
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Primary Disease Associations & Inheritance

Optic atrophy 10 with or without ataxia, impaired intellectual development and seizuresMIM #616732
AR
0
Active trials
4
Pubs (1 yr)
0
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/OPA10?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OPA10 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC