CBARA1
| MICU1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MICU1, CALC, CBARA1, EFHA3, MPXPS, mitochondrial calcium uptake 1, ara CALC | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605084; MGI: 2384909; HomoloGene: 4431; GeneCards: MICU1; OMA:MICU1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Calcium-binding atopy-related autoantigen 1 is a protein that in humans is encoded by the CBARA1 gene.[5][6]
Clinical
[edit]Mutations in this gene have been associated with myopathy with extrapyramidal signs.[7]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000107745 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020111 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ 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.
- ↑ "Entrez Gene: CBARA1 calcium binding atopy-related autoantigen 1".
- ↑ 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
[edit]- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
External links
[edit]- MICU1 human gene location in the UCSC Genome Browser.
- MICU1 human gene details in the UCSC Genome Browser.
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