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CBARA1

From Wikipedia, the free encyclopedia

MICU1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMICU1, CALC, CBARA1, EFHA3, MPXPS, mitochondrial calcium uptake 1, ara CALC
External IDsOMIM: 605084; MGI: 2384909; HomoloGene: 4431; GeneCards: MICU1; OMA:MICU1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001195518
NM_001195519
NM_006077
NM_001363513

NM_001291442
NM_001291443
NM_144822
NM_001359267

RefSeq (protein)

NP_001182447
NP_001182448
NP_006068
NP_001350442

NP_001278371
NP_001278372
NP_659071
NP_001346196

Location (UCSC)Chr 10: 72.37 – 72.63 MbChr 10: 59.54 – 59.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Calcium-binding atopy-related autoantigen 1 is a protein that in humans is encoded by the CBARA1 gene.[5][6]

Clinical

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Mutations in this gene have been associated with myopathy with extrapyramidal signs.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107745Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020111Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Natter S, Seiberler S, Hufnagl P, Binder BR, Hirschl AM, Ring J, Abeck D, Schmidt T, Valent P, Valenta R (Nov 1998). "Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients". FASEB J. 12 (14): 1559–69. doi:10.1096/fasebj.12.14.1559. PMID 9806765. S2CID 18002244.
  6. ^ "Entrez Gene: CBARA1 calcium binding atopy-related autoantigen 1".
  7. ^ Mojbafan M, Nojehdeh ST, Rahiminejad F, Nilipour Y, Tonekaboni SH, Zeinali S (2020) Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report. BMC Med Genet 21(1):77

Further reading

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