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MIMS2

Chr 20

mitochondrial inner membrane scaffold 2

Also known as: 5A3, C20orf108, FAM210B, dJ1167H4.1

The protein is involved in cellular response to estradiol and promotes erythrocyte differentiation, localizing to the mitochondrial outer membrane. Mutations cause an autosomal recessive disorder, though specific clinical phenotypes have not been fully characterized. The inheritance pattern is autosomal recessive.

OMIMResearchSummary from RefSeq
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MIMS2?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

MIMS2 · 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
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found