CIAO1

Chr 2

cytosolic iron-sulfur assembly component 1

Also known as: CIA1, MMDS10, WDR39

NCBI Gene: 9391 ENSG00000144021 UniProt: O76071

CIAO1 encodes a key component of the cytosolic iron-sulfur protein assembly complex that mediates incorporation of iron-sulfur clusters into cytosolic and nuclear proteins. Mutations cause multiple mitochondrial dysfunctions syndrome 10, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variants (pLI 0.001, LOEUF 0.76).

ResearchSummary from RefSeq, OMIM, UniProt

Involved in protein maturation. Located in cytoplasm. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMultiple mitochondrial dysfunctions syndrome 10

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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