Homo sapiens cDNA FLJ57888 complete cds, highly similar to Beta-sarcog - Nucleotide

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Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. [Sci Rep. 2023]
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
Sanga S, Chakraborty S, Bardhan M, Polavarapu K, Kumar VP, Bhattacharya C, Nashi S, Vengalil S, Geetha TS, Ramprasad V, et al. Sci Rep. 2023 Sep 12; 13(1):15095. Epub 2023 Sep 12.
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. [J Clin Invest. 2023]
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C, Wilborn J, Pittman S, Daw J, Alonso-Pérez J, Díaz-Manera J, Weihl CC, Haller G. J Clin Invest. 2023 Jun 15; 133(12). Epub 2023 Jun 15.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1. [Proc Natl Acad Sci U S A. 2022]
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1.
Simonetti B, Daly JL, Simón-Gracia L, Klein K, Weeratunga S, Antón-Plágaro C, Tobi A, Hodgson L, Lewis PA, Heesom KJ, et al. Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25):e2201980119. Epub 2022 Jun 13.

RefSeq alternative splicing
See 7 reference mRNA sequence splice variants for the SGCB gene.

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Nucleotide