ORAI Calcium Release-Activated Calcium Modulator 1

Alternative Names

  • ORAI1
  • Calcium Release-Activated Calcium Modulator 1
  • CRACM1
  • Transmembrane Protein 142A
  • TMEM142A

Associated Diseases

Immunodeficiency 9
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OMIM Number

610277

NCBI Gene ID

84876

Uniprot ID

Q96D31

Length

15,491 bases

No. of Exons

2

No. of isoforms

2

Protein Name

Calcium release-activated calcium channel protein 1

Molecular Mass

32668 Da

Amino Acid Count

301

Genomic Location

chr12:121,626,549-121,642,039

Gene Map Locus
12q24.31

Description

The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032790.3:c.493dupUnited Arab EmiratesNC_000012.12:g.121641230dupPathogenicImmunodeficiency 9NG_007500.1:g.19656dup; NM_032790.3:c.493dup; NP_116179.2:p.His165ProfsTer2
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