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MISO1

Chr 3

mitochondrial inner membrane subdomain organizer 1

Also known as: AC3-33, C3orf33, MISO

NCBI Gene: 285315 UniProt: Q6P1S2 OMIM: 619654

Involved in negative regulation of ERK1 and ERK2 cascade and regulation of DNA-binding transcription factor activity. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical Summary— MISO1

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ClinVar Variants

4 total variants — no pathogenic classifications of 4 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MISO1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

4 pathogenic / likely-pathogenic (of 6) ClinVar copy-number / structural variants overlap MISO1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →