CBARA1 explained

Calcium-binding atopy-related autoantigen 1 is a protein that in humans is encoded by the CBARA1 gene.^{[1] [2]}

Clinical

Mutations in this gene have been associated with myopathy with extrapyramidal signs.^[3]

Further reading

• Kimura K, Wakamatsu A, Suzuki Y . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Wiemann S, Weil B, Wellenreuther R . 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 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 . etal.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .

Notes and References

1. Natter S, Seiberler S, Hufnagl P, Binder BR, Hirschl AM, Ring J, Abeck D, Schmidt T, Valent P, Valenta R . Isolation of cDNA clones coding for IgE autoantigens with serum IgE from atopic dermatitis patients . FASEB J . 12 . 14 . 1559–69 . Nov 1998 . 9806765 . 10.1096/fasebj.12.14.1559. free . 18002244 .
2. Web site: Entrez Gene: CBARA1 calcium binding atopy-related autoantigen 1.
3. 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