MICU3

Chr 8

mitochondrial calcium uptake 3

Also known as: EFHA2, hMICU3

NCBI Gene: 286097 ENSG00000155970 UniProt: Q86XE3 OMIM: 610633

MICU3 encodes a tissue-specific calcium sensor that regulates the mitochondrial calcium uniporter channel in the central nervous system and skeletal muscle, forming a heterodimer with MICU1 to control mitochondrial calcium uptake based on cellular calcium levels. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy or early childhood. The gene is not highly constrained against loss-of-function variants, suggesting that complete loss of protein function may be tolerated in some contexts.

OMIM ResearchSummary from RefSeq, UniProt

Enables calcium channel regulator activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion and cellular response to calcium ion. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)