Mitochondrial Calcium Uptake Protein 1

Alternative Names

  • MICU1
  • Calcium-Binding Atopy-Related Autoantigen 1
  • CBARA1
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OMIM Number

605084

NCBI Gene ID

10367

Uniprot ID

Q9BPX6

Length

258,758 bases

No. of Exons

17

No. of isoforms

5

Protein Name

Calcium uptake protein 1, mitochondrial

Molecular Mass

54351 Da

Amino Acid Count

476

Genomic Location

chr10:72,367,338-72,626,095

Gene Map Locus
10q22.1

Description

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001195518.1:c.553C>TUnited Arab EmiratesNC_000010.11:g.72508254G>APathogenicMyopathy with Extrapyramidal SignsNG_033179.1:g.122938C>T; NM_001195518.1:c.553C>T; NP_001182447.1:p.Arg185Ter755651388
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