MICU1

Chr 10AR

mitochondrial calcium uptake 1

Also known as: CALC, CBARA1, EFHA3, MPXPS, ara CALC

NCBI Gene: 10367 ENSG00000107745 UniProt: Q9BPX6 OMIM: 605084

The protein regulates mitochondrial calcium uptake by interacting with the mitochondrial calcium uniporter to prevent calcium overload and excessive reactive oxygen species production. Mutations cause myopathy with extrapyramidal signs through autosomal recessive inheritance. Loss of function leads to impaired mitochondrial calcium homeostasis resulting in cellular stress and dysfunction.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Myopathy with extrapyramidal signsMIM #615673

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

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)

—

P/LP submissions

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P/LP missense

1.29

LOEUF

LOF

Mechanism· G2P